Name: rs34061744
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs34061744

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:17811404-17811421 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₈ / del(A)₇ / del(A)₆ / del(…
del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₈=0.00 (0/100, ALFA)
del(A)₇=0.00 (0/100, ALFA)
del(A)₆=0.00 (0/100, ALFA) (+ 9 more)
del(A)₅=0.00 (0/100, ALFA)
del(A)₄=0.00 (0/100, ALFA)
delAAA=0.00 (0/100, ALFA)
delAA=0.00 (0/100, ALFA)
delA=0.00 (0/100, ALFA)
dupA=0.00 (0/100, ALFA)
dupAA=0.00 (0/100, ALFA)
dupAAA=0.00 (0/100, ALFA)
dup(A)₄=0.00 (0/100, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SREBF1 : Non Coding Transcript Variant
RAI1 : 3 Prime UTR Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	100	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
European	Sub	88	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	8	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	8	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	100	(A)₁₈=1.00	del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	European	Sub	88	(A)₁₈=1.00	del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	African	Sub	8	(A)₁₈=1.0	del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Latin American 2	Sub	2	(A)₁₈=1.0	del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Other	Sub	2	(A)₁₈=1.0	del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₁₈=0	del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₁₈=0	del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₈=0	del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 17	NC_000017.11:g.17811414_17811421del
GRCh38.p14 chr 17	NC_000017.11:g.17811415_17811421del
GRCh38.p14 chr 17	NC_000017.11:g.17811416_17811421del
GRCh38.p14 chr 17	NC_000017.11:g.17811417_17811421del
GRCh38.p14 chr 17	NC_000017.11:g.17811418_17811421del
GRCh38.p14 chr 17	NC_000017.11:g.17811419_17811421del
GRCh38.p14 chr 17	NC_000017.11:g.17811420_17811421del
GRCh38.p14 chr 17	NC_000017.11:g.17811421del
GRCh38.p14 chr 17	NC_000017.11:g.17811421dup
GRCh38.p14 chr 17	NC_000017.11:g.17811420_17811421dup
GRCh38.p14 chr 17	NC_000017.11:g.17811419_17811421dup
GRCh38.p14 chr 17	NC_000017.11:g.17811418_17811421dup
GRCh37.p13 chr 17	NC_000017.10:g.17714728_17714735del
GRCh37.p13 chr 17	NC_000017.10:g.17714729_17714735del
GRCh37.p13 chr 17	NC_000017.10:g.17714730_17714735del
GRCh37.p13 chr 17	NC_000017.10:g.17714731_17714735del
GRCh37.p13 chr 17	NC_000017.10:g.17714732_17714735del
GRCh37.p13 chr 17	NC_000017.10:g.17714733_17714735del
GRCh37.p13 chr 17	NC_000017.10:g.17714734_17714735del
GRCh37.p13 chr 17	NC_000017.10:g.17714735del
GRCh37.p13 chr 17	NC_000017.10:g.17714735dup
GRCh37.p13 chr 17	NC_000017.10:g.17714734_17714735dup
GRCh37.p13 chr 17	NC_000017.10:g.17714733_17714735dup
GRCh37.p13 chr 17	NC_000017.10:g.17714732_17714735dup
RAI1 RefSeqGene	NG_007101.2:g.134942_134949del
RAI1 RefSeqGene	NG_007101.2:g.134943_134949del
RAI1 RefSeqGene	NG_007101.2:g.134944_134949del
RAI1 RefSeqGene	NG_007101.2:g.134945_134949del
RAI1 RefSeqGene	NG_007101.2:g.134946_134949del
RAI1 RefSeqGene	NG_007101.2:g.134947_134949del
RAI1 RefSeqGene	NG_007101.2:g.134948_134949del
RAI1 RefSeqGene	NG_007101.2:g.134949del
RAI1 RefSeqGene	NG_007101.2:g.134949dup
RAI1 RefSeqGene	NG_007101.2:g.134948_134949dup
RAI1 RefSeqGene	NG_007101.2:g.134947_134949dup
RAI1 RefSeqGene	NG_007101.2:g.134946_134949dup
SREBF1 RefSeqGene	NG_029029.1:g.30601_30608del
SREBF1 RefSeqGene	NG_029029.1:g.30602_30608del
SREBF1 RefSeqGene	NG_029029.1:g.30603_30608del
SREBF1 RefSeqGene	NG_029029.1:g.30604_30608del
SREBF1 RefSeqGene	NG_029029.1:g.30605_30608del
SREBF1 RefSeqGene	NG_029029.1:g.30606_30608del
SREBF1 RefSeqGene	NG_029029.1:g.30607_30608del
SREBF1 RefSeqGene	NG_029029.1:g.30608del
SREBF1 RefSeqGene	NG_029029.1:g.30608dup
SREBF1 RefSeqGene	NG_029029.1:g.30607_30608dup
SREBF1 RefSeqGene	NG_029029.1:g.30606_30608dup
SREBF1 RefSeqGene	NG_029029.1:g.30605_30608dup

Gene: RAI1, retinoic acid induced 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAI1 transcript	NM_030665.4:c.1423_1440=	N/A	3 Prime UTR Variant
RAI1 transcript variant X5	XM_047435149.1:c.1423_1… XM_047435149.1:c.1423_1440=	N/A	3 Prime UTR Variant
RAI1 transcript variant X6	XM_017024027.2:c.1423_1… XM_017024027.2:c.1423_1440=	N/A	3 Prime UTR Variant
RAI1 transcript variant X1	XM_017024028.3:c.1423_1… XM_017024028.3:c.1423_1440=	N/A	3 Prime UTR Variant
RAI1 transcript variant X7	XM_047435150.1:c.1423_1… XM_047435150.1:c.1423_1440=	N/A	3 Prime UTR Variant
RAI1 transcript variant X2	XM_047435151.1:c.1423_1… XM_047435151.1:c.1423_1440=	N/A	3 Prime UTR Variant
RAI1 transcript variant X3	XM_047435152.1:c.1423_1… XM_047435152.1:c.1423_1440=	N/A	3 Prime UTR Variant
RAI1 transcript variant X4	XM_047435153.1:c.1423_1… XM_047435153.1:c.1423_1440=	N/A	3 Prime UTR Variant

Gene: SREBF1, sterol regulatory element binding transcription factor 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SREBF1 transcript variant 3	NM_001321096.3:c.1201_1… NM_001321096.3:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 1	NM_001005291.3:c.1201_1… NM_001005291.3:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 2	NM_004176.5:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 11	NM_001388392.1:c.1201_1… NM_001388392.1:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 12	NM_001388393.1:c.1201_1… NM_001388393.1:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 7	NM_001388388.1:c.1026_1… NM_001388388.1:c.1026_1043=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 5	NM_001388386.1:c.1026_1… NM_001388386.1:c.1026_1043=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 10	NM_001388391.1:c.1201_1… NM_001388391.1:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 6	NM_001388387.1:c.1201_1… NM_001388387.1:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 13	NM_001388394.1:c.1201_1… NM_001388394.1:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 9	NM_001388390.1:c.1201_1… NM_001388390.1:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 4	NM_001388385.1:c.1201_1… NM_001388385.1:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 8	NM_001388389.1:c.1201_1… NM_001388389.1:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant 16	NR_170945.1:n.3931_3938del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3932_3938del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3933_3938del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3934_3938del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3935_3938del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3936_3938del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3937_3938del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3938del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3938dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3937_3938dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3936_3938dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 16	NR_170945.1:n.3935_3938dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4636_4643del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4637_4643del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4638_4643del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4639_4643del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4640_4643del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4641_4643del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4642_4643del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4643del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4643dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4642_4643dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4641_4643dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 14	NR_170943.1:n.4640_4643dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3841_3848del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3842_3848del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3843_3848del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3844_3848del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3845_3848del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3846_3848del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3847_3848del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3848del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3848dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3847_3848dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3846_3848dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 15	NR_170944.1:n.3845_3848dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3787_3794del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3788_3794del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3789_3794del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3790_3794del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3791_3794del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3792_3794del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3793_3794del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3794del	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3794dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3793_3794dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3792_3794dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant 17	NR_170990.1:n.3791_3794dup	N/A	Non Coding Transcript Variant
SREBF1 transcript variant X1	XM_047436580.1:c.1201_1… XM_047436580.1:c.1201_1218=	N/A	3 Prime UTR Variant
SREBF1 transcript variant X2	XM_047436581.1:c.	N/A	Genic Downstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₁₈=	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 17	NC_000017.11:g.17811404_17811421=	NC_000017.11:g.17811414_17811421del	NC_000017.11:g.17811415_17811421del	NC_000017.11:g.17811416_17811421del	NC_000017.11:g.17811417_17811421del	NC_000017.11:g.17811418_17811421del	NC_000017.11:g.17811419_17811421del	NC_000017.11:g.17811420_17811421del	NC_000017.11:g.17811421del	NC_000017.11:g.17811421dup	NC_000017.11:g.17811420_17811421dup	NC_000017.11:g.17811419_17811421dup	NC_000017.11:g.17811418_17811421dup
GRCh37.p13 chr 17	NC_000017.10:g.17714718_17714735=	NC_000017.10:g.17714728_17714735del	NC_000017.10:g.17714729_17714735del	NC_000017.10:g.17714730_17714735del	NC_000017.10:g.17714731_17714735del	NC_000017.10:g.17714732_17714735del	NC_000017.10:g.17714733_17714735del	NC_000017.10:g.17714734_17714735del	NC_000017.10:g.17714735del	NC_000017.10:g.17714735dup	NC_000017.10:g.17714734_17714735dup	NC_000017.10:g.17714733_17714735dup	NC_000017.10:g.17714732_17714735dup
RAI1 RefSeqGene	NG_007101.2:g.134932_134949=	NG_007101.2:g.134942_134949del	NG_007101.2:g.134943_134949del	NG_007101.2:g.134944_134949del	NG_007101.2:g.134945_134949del	NG_007101.2:g.134946_134949del	NG_007101.2:g.134947_134949del	NG_007101.2:g.134948_134949del	NG_007101.2:g.134949del	NG_007101.2:g.134949dup	NG_007101.2:g.134948_134949dup	NG_007101.2:g.134947_134949dup	NG_007101.2:g.134946_134949dup
RAI1 transcript	NM_030665.4:c.1423_1440=	NM_030665.4:c.1433_1440del	NM_030665.4:c.1434_1440del	NM_030665.4:c.1435_1440del	NM_030665.4:c.1436_1440del	NM_030665.4:c.1437_1440del	NM_030665.4:c.1438_1440del	NM_030665.4:c.1439_1440del	NM_030665.4:c.*1440del	NM_030665.4:c.*1440dup	NM_030665.4:c.1439_1440dup	NM_030665.4:c.1438_1440dup	NM_030665.4:c.1437_1440dup
RAI1 transcript	NM_030665.3:c.1423_1440=	NM_030665.3:c.1433_1440del	NM_030665.3:c.1434_1440del	NM_030665.3:c.1435_1440del	NM_030665.3:c.1436_1440del	NM_030665.3:c.1437_1440del	NM_030665.3:c.1438_1440del	NM_030665.3:c.1439_1440del	NM_030665.3:c.*1440del	NM_030665.3:c.*1440dup	NM_030665.3:c.1439_1440dup	NM_030665.3:c.1438_1440dup	NM_030665.3:c.1437_1440dup
SREBF1 RefSeqGene	NG_029029.1:g.30591_30608=	NG_029029.1:g.30601_30608del	NG_029029.1:g.30602_30608del	NG_029029.1:g.30603_30608del	NG_029029.1:g.30604_30608del	NG_029029.1:g.30605_30608del	NG_029029.1:g.30606_30608del	NG_029029.1:g.30607_30608del	NG_029029.1:g.30608del	NG_029029.1:g.30608dup	NG_029029.1:g.30607_30608dup	NG_029029.1:g.30606_30608dup	NG_029029.1:g.30605_30608dup
SREBF1 transcript variant 2	NM_004176.5:c.1201_1218=	NM_004176.5:c.1211_1218del	NM_004176.5:c.1212_1218del	NM_004176.5:c.1213_1218del	NM_004176.5:c.1214_1218del	NM_004176.5:c.1215_1218del	NM_004176.5:c.1216_1218del	NM_004176.5:c.1217_1218del	NM_004176.5:c.*1218del	NM_004176.5:c.*1218dup	NM_004176.5:c.1217_1218dup	NM_004176.5:c.1216_1218dup	NM_004176.5:c.1215_1218dup
SREBF1 transcript variant 2	NM_004176.4:c.1201_1218=	NM_004176.4:c.1211_1218del	NM_004176.4:c.1212_1218del	NM_004176.4:c.1213_1218del	NM_004176.4:c.1214_1218del	NM_004176.4:c.1215_1218del	NM_004176.4:c.1216_1218del	NM_004176.4:c.1217_1218del	NM_004176.4:c.*1218del	NM_004176.4:c.*1218dup	NM_004176.4:c.1217_1218dup	NM_004176.4:c.1216_1218dup	NM_004176.4:c.1215_1218dup
SREBF1 transcript variant 1	NM_001005291.3:c.1201_1218=	NM_001005291.3:c.1211_1218del	NM_001005291.3:c.1212_1218del	NM_001005291.3:c.1213_1218del	NM_001005291.3:c.1214_1218del	NM_001005291.3:c.1215_1218del	NM_001005291.3:c.1216_1218del	NM_001005291.3:c.1217_1218del	NM_001005291.3:c.*1218del	NM_001005291.3:c.*1218dup	NM_001005291.3:c.1217_1218dup	NM_001005291.3:c.1216_1218dup	NM_001005291.3:c.1215_1218dup
SREBF1 transcript variant 1	NM_001005291.2:c.1201_1218=	NM_001005291.2:c.1211_1218del	NM_001005291.2:c.1212_1218del	NM_001005291.2:c.1213_1218del	NM_001005291.2:c.1214_1218del	NM_001005291.2:c.1215_1218del	NM_001005291.2:c.1216_1218del	NM_001005291.2:c.1217_1218del	NM_001005291.2:c.*1218del	NM_001005291.2:c.*1218dup	NM_001005291.2:c.1217_1218dup	NM_001005291.2:c.1216_1218dup	NM_001005291.2:c.1215_1218dup
SREBF1 transcript variant 3	NM_001321096.3:c.1201_1218=	NM_001321096.3:c.1211_1218del	NM_001321096.3:c.1212_1218del	NM_001321096.3:c.1213_1218del	NM_001321096.3:c.1214_1218del	NM_001321096.3:c.1215_1218del	NM_001321096.3:c.1216_1218del	NM_001321096.3:c.1217_1218del	NM_001321096.3:c.*1218del	NM_001321096.3:c.*1218dup	NM_001321096.3:c.1217_1218dup	NM_001321096.3:c.1216_1218dup	NM_001321096.3:c.1215_1218dup
SREBF1 transcript variant 3	NM_001321096.1:c.1201_1218=	NM_001321096.1:c.1211_1218del	NM_001321096.1:c.1212_1218del	NM_001321096.1:c.1213_1218del	NM_001321096.1:c.1214_1218del	NM_001321096.1:c.1215_1218del	NM_001321096.1:c.1216_1218del	NM_001321096.1:c.1217_1218del	NM_001321096.1:c.*1218del	NM_001321096.1:c.*1218dup	NM_001321096.1:c.1217_1218dup	NM_001321096.1:c.1216_1218dup	NM_001321096.1:c.1215_1218dup
SREBF1 transcript variant 4	NM_001388385.1:c.1201_1218=	NM_001388385.1:c.1211_1218del	NM_001388385.1:c.1212_1218del	NM_001388385.1:c.1213_1218del	NM_001388385.1:c.1214_1218del	NM_001388385.1:c.1215_1218del	NM_001388385.1:c.1216_1218del	NM_001388385.1:c.1217_1218del	NM_001388385.1:c.*1218del	NM_001388385.1:c.*1218dup	NM_001388385.1:c.1217_1218dup	NM_001388385.1:c.1216_1218dup	NM_001388385.1:c.1215_1218dup
SREBF1 transcript variant 6	NM_001388387.1:c.1201_1218=	NM_001388387.1:c.1211_1218del	NM_001388387.1:c.1212_1218del	NM_001388387.1:c.1213_1218del	NM_001388387.1:c.1214_1218del	NM_001388387.1:c.1215_1218del	NM_001388387.1:c.1216_1218del	NM_001388387.1:c.1217_1218del	NM_001388387.1:c.*1218del	NM_001388387.1:c.*1218dup	NM_001388387.1:c.1217_1218dup	NM_001388387.1:c.1216_1218dup	NM_001388387.1:c.1215_1218dup
SREBF1 transcript variant 8	NM_001388389.1:c.1201_1218=	NM_001388389.1:c.1211_1218del	NM_001388389.1:c.1212_1218del	NM_001388389.1:c.1213_1218del	NM_001388389.1:c.1214_1218del	NM_001388389.1:c.1215_1218del	NM_001388389.1:c.1216_1218del	NM_001388389.1:c.1217_1218del	NM_001388389.1:c.*1218del	NM_001388389.1:c.*1218dup	NM_001388389.1:c.1217_1218dup	NM_001388389.1:c.1216_1218dup	NM_001388389.1:c.1215_1218dup
SREBF1 transcript variant 9	NM_001388390.1:c.1201_1218=	NM_001388390.1:c.1211_1218del	NM_001388390.1:c.1212_1218del	NM_001388390.1:c.1213_1218del	NM_001388390.1:c.1214_1218del	NM_001388390.1:c.1215_1218del	NM_001388390.1:c.1216_1218del	NM_001388390.1:c.1217_1218del	NM_001388390.1:c.*1218del	NM_001388390.1:c.*1218dup	NM_001388390.1:c.1217_1218dup	NM_001388390.1:c.1216_1218dup	NM_001388390.1:c.1215_1218dup
SREBF1 transcript variant 10	NM_001388391.1:c.1201_1218=	NM_001388391.1:c.1211_1218del	NM_001388391.1:c.1212_1218del	NM_001388391.1:c.1213_1218del	NM_001388391.1:c.1214_1218del	NM_001388391.1:c.1215_1218del	NM_001388391.1:c.1216_1218del	NM_001388391.1:c.1217_1218del	NM_001388391.1:c.*1218del	NM_001388391.1:c.*1218dup	NM_001388391.1:c.1217_1218dup	NM_001388391.1:c.1216_1218dup	NM_001388391.1:c.1215_1218dup
SREBF1 transcript variant 5	NM_001388386.1:c.1026_1043=	NM_001388386.1:c.1036_1043del	NM_001388386.1:c.1037_1043del	NM_001388386.1:c.1038_1043del	NM_001388386.1:c.1039_1043del	NM_001388386.1:c.1040_1043del	NM_001388386.1:c.1041_1043del	NM_001388386.1:c.1042_1043del	NM_001388386.1:c.*1043del	NM_001388386.1:c.*1043dup	NM_001388386.1:c.1042_1043dup	NM_001388386.1:c.1041_1043dup	NM_001388386.1:c.1040_1043dup
SREBF1 transcript variant 7	NM_001388388.1:c.1026_1043=	NM_001388388.1:c.1036_1043del	NM_001388388.1:c.1037_1043del	NM_001388388.1:c.1038_1043del	NM_001388388.1:c.1039_1043del	NM_001388388.1:c.1040_1043del	NM_001388388.1:c.1041_1043del	NM_001388388.1:c.1042_1043del	NM_001388388.1:c.*1043del	NM_001388388.1:c.*1043dup	NM_001388388.1:c.1042_1043dup	NM_001388388.1:c.1041_1043dup	NM_001388388.1:c.1040_1043dup
SREBF1 transcript variant 14	NR_170943.1:n.4626_4643=	NR_170943.1:n.4636_4643del	NR_170943.1:n.4637_4643del	NR_170943.1:n.4638_4643del	NR_170943.1:n.4639_4643del	NR_170943.1:n.4640_4643del	NR_170943.1:n.4641_4643del	NR_170943.1:n.4642_4643del	NR_170943.1:n.4643del	NR_170943.1:n.4643dup	NR_170943.1:n.4642_4643dup	NR_170943.1:n.4641_4643dup	NR_170943.1:n.4640_4643dup
SREBF1 transcript variant 11	NM_001388392.1:c.1201_1218=	NM_001388392.1:c.1211_1218del	NM_001388392.1:c.1212_1218del	NM_001388392.1:c.1213_1218del	NM_001388392.1:c.1214_1218del	NM_001388392.1:c.1215_1218del	NM_001388392.1:c.1216_1218del	NM_001388392.1:c.1217_1218del	NM_001388392.1:c.*1218del	NM_001388392.1:c.*1218dup	NM_001388392.1:c.1217_1218dup	NM_001388392.1:c.1216_1218dup	NM_001388392.1:c.1215_1218dup
SREBF1 transcript variant 12	NM_001388393.1:c.1201_1218=	NM_001388393.1:c.1211_1218del	NM_001388393.1:c.1212_1218del	NM_001388393.1:c.1213_1218del	NM_001388393.1:c.1214_1218del	NM_001388393.1:c.1215_1218del	NM_001388393.1:c.1216_1218del	NM_001388393.1:c.1217_1218del	NM_001388393.1:c.*1218del	NM_001388393.1:c.*1218dup	NM_001388393.1:c.1217_1218dup	NM_001388393.1:c.1216_1218dup	NM_001388393.1:c.1215_1218dup
SREBF1 transcript variant 13	NM_001388394.1:c.1201_1218=	NM_001388394.1:c.1211_1218del	NM_001388394.1:c.1212_1218del	NM_001388394.1:c.1213_1218del	NM_001388394.1:c.1214_1218del	NM_001388394.1:c.1215_1218del	NM_001388394.1:c.1216_1218del	NM_001388394.1:c.1217_1218del	NM_001388394.1:c.*1218del	NM_001388394.1:c.*1218dup	NM_001388394.1:c.1217_1218dup	NM_001388394.1:c.1216_1218dup	NM_001388394.1:c.1215_1218dup
SREBF1 transcript variant 16	NR_170945.1:n.3921_3938=	NR_170945.1:n.3931_3938del	NR_170945.1:n.3932_3938del	NR_170945.1:n.3933_3938del	NR_170945.1:n.3934_3938del	NR_170945.1:n.3935_3938del	NR_170945.1:n.3936_3938del	NR_170945.1:n.3937_3938del	NR_170945.1:n.3938del	NR_170945.1:n.3938dup	NR_170945.1:n.3937_3938dup	NR_170945.1:n.3936_3938dup	NR_170945.1:n.3935_3938dup
SREBF1 transcript variant 15	NR_170944.1:n.3831_3848=	NR_170944.1:n.3841_3848del	NR_170944.1:n.3842_3848del	NR_170944.1:n.3843_3848del	NR_170944.1:n.3844_3848del	NR_170944.1:n.3845_3848del	NR_170944.1:n.3846_3848del	NR_170944.1:n.3847_3848del	NR_170944.1:n.3848del	NR_170944.1:n.3848dup	NR_170944.1:n.3847_3848dup	NR_170944.1:n.3846_3848dup	NR_170944.1:n.3845_3848dup
SREBF1 transcript variant 17	NR_170990.1:n.3777_3794=	NR_170990.1:n.3787_3794del	NR_170990.1:n.3788_3794del	NR_170990.1:n.3789_3794del	NR_170990.1:n.3790_3794del	NR_170990.1:n.3791_3794del	NR_170990.1:n.3792_3794del	NR_170990.1:n.3793_3794del	NR_170990.1:n.3794del	NR_170990.1:n.3794dup	NR_170990.1:n.3793_3794dup	NR_170990.1:n.3792_3794dup	NR_170990.1:n.3791_3794dup
RAI1 transcript variant X1	XM_017024028.3:c.1423_1440=	XM_017024028.3:c.1433_1440del	XM_017024028.3:c.1434_1440del	XM_017024028.3:c.1435_1440del	XM_017024028.3:c.1436_1440del	XM_017024028.3:c.1437_1440del	XM_017024028.3:c.1438_1440del	XM_017024028.3:c.1439_1440del	XM_017024028.3:c.*1440del	XM_017024028.3:c.*1440dup	XM_017024028.3:c.1439_1440dup	XM_017024028.3:c.1438_1440dup	XM_017024028.3:c.1437_1440dup
RAI1 transcript variant X6	XM_017024027.2:c.1423_1440=	XM_017024027.2:c.1433_1440del	XM_017024027.2:c.1434_1440del	XM_017024027.2:c.1435_1440del	XM_017024027.2:c.1436_1440del	XM_017024027.2:c.1437_1440del	XM_017024027.2:c.1438_1440del	XM_017024027.2:c.1439_1440del	XM_017024027.2:c.*1440del	XM_017024027.2:c.*1440dup	XM_017024027.2:c.1439_1440dup	XM_017024027.2:c.1438_1440dup	XM_017024027.2:c.1437_1440dup
RAI1 transcript variant X2	XM_047435151.1:c.1423_1440=	XM_047435151.1:c.1433_1440del	XM_047435151.1:c.1434_1440del	XM_047435151.1:c.1435_1440del	XM_047435151.1:c.1436_1440del	XM_047435151.1:c.1437_1440del	XM_047435151.1:c.1438_1440del	XM_047435151.1:c.1439_1440del	XM_047435151.1:c.*1440del	XM_047435151.1:c.*1440dup	XM_047435151.1:c.1439_1440dup	XM_047435151.1:c.1438_1440dup	XM_047435151.1:c.1437_1440dup
RAI1 transcript variant X5	XM_047435149.1:c.1423_1440=	XM_047435149.1:c.1433_1440del	XM_047435149.1:c.1434_1440del	XM_047435149.1:c.1435_1440del	XM_047435149.1:c.1436_1440del	XM_047435149.1:c.1437_1440del	XM_047435149.1:c.1438_1440del	XM_047435149.1:c.1439_1440del	XM_047435149.1:c.*1440del	XM_047435149.1:c.*1440dup	XM_047435149.1:c.1439_1440dup	XM_047435149.1:c.1438_1440dup	XM_047435149.1:c.1437_1440dup
RAI1 transcript variant X3	XM_047435152.1:c.1423_1440=	XM_047435152.1:c.1433_1440del	XM_047435152.1:c.1434_1440del	XM_047435152.1:c.1435_1440del	XM_047435152.1:c.1436_1440del	XM_047435152.1:c.1437_1440del	XM_047435152.1:c.1438_1440del	XM_047435152.1:c.1439_1440del	XM_047435152.1:c.*1440del	XM_047435152.1:c.*1440dup	XM_047435152.1:c.1439_1440dup	XM_047435152.1:c.1438_1440dup	XM_047435152.1:c.1437_1440dup
RAI1 transcript variant X4	XM_047435153.1:c.1423_1440=	XM_047435153.1:c.1433_1440del	XM_047435153.1:c.1434_1440del	XM_047435153.1:c.1435_1440del	XM_047435153.1:c.1436_1440del	XM_047435153.1:c.1437_1440del	XM_047435153.1:c.1438_1440del	XM_047435153.1:c.1439_1440del	XM_047435153.1:c.*1440del	XM_047435153.1:c.*1440dup	XM_047435153.1:c.1439_1440dup	XM_047435153.1:c.1438_1440dup	XM_047435153.1:c.1437_1440dup
RAI1 transcript variant X7	XM_047435150.1:c.1423_1440=	XM_047435150.1:c.1433_1440del	XM_047435150.1:c.1434_1440del	XM_047435150.1:c.1435_1440del	XM_047435150.1:c.1436_1440del	XM_047435150.1:c.1437_1440del	XM_047435150.1:c.1438_1440del	XM_047435150.1:c.1439_1440del	XM_047435150.1:c.*1440del	XM_047435150.1:c.*1440dup	XM_047435150.1:c.1439_1440dup	XM_047435150.1:c.1438_1440dup	XM_047435150.1:c.1437_1440dup
RAI1 transcript variant 1	NM_017574.1:c.524_541=	NM_017574.1:c.534_541del	NM_017574.1:c.535_541del	NM_017574.1:c.536_541del	NM_017574.1:c.537_541del	NM_017574.1:c.538_541del	NM_017574.1:c.539_541del	NM_017574.1:c.540_541del	NM_017574.1:c.*541del	NM_017574.1:c.*541dup	NM_017574.1:c.540_541dup	NM_017574.1:c.539_541dup	NM_017574.1:c.538_541dup
SREBF1 transcript variant X1	XM_047436580.1:c.1201_1218=	XM_047436580.1:c.1211_1218del	XM_047436580.1:c.1212_1218del	XM_047436580.1:c.1213_1218del	XM_047436580.1:c.1214_1218del	XM_047436580.1:c.1215_1218del	XM_047436580.1:c.1216_1218del	XM_047436580.1:c.1217_1218del	XM_047436580.1:c.*1218del	XM_047436580.1:c.*1218dup	XM_047436580.1:c.1217_1218dup	XM_047436580.1:c.1216_1218dup	XM_047436580.1:c.1215_1218dup
RAI1 transcript variant 2	NM_152256.1:c.113_130=	NM_152256.1:c.123_130del	NM_152256.1:c.124_130del	NM_152256.1:c.125_130del	NM_152256.1:c.126_130del	NM_152256.1:c.127_130del	NM_152256.1:c.128_130del	NM_152256.1:c.129_130del	NM_152256.1:c.*130del	NM_152256.1:c.*130dup	NM_152256.1:c.129_130dup	NM_152256.1:c.128_130dup	NM_152256.1:c.127_130dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

61 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40782899	Oct 12, 2018 (152)
2	ABI	ss40825099	Mar 14, 2006 (126)
3	ABI	ss40854201	Dec 03, 2013 (138)
4	HGSV	ss77997941	Dec 04, 2013 (138)
5	HGSV	ss79877685	Dec 04, 2013 (138)
6	HGSV	ss80443831	Aug 21, 2014 (142)
7	HGSV	ss81770795	Sep 08, 2015 (146)
8	HUMANGENOME_JCVI	ss95690411	Dec 05, 2013 (138)
9	PJP	ss294907240	May 09, 2011 (137)
10	PJP	ss294907241	May 09, 2011 (138)
11	SSMP	ss664346324	Jan 10, 2018 (151)
12	TMC_SNPDB	ss1997088187	Jan 10, 2018 (151)
13	TMC_SNPDB	ss1997088189	Jul 19, 2016 (147)
14	SWEGEN	ss3015287160	Nov 08, 2017 (151)
15	MCHAISSO	ss3063862283	Jan 10, 2018 (151)
16	MCHAISSO	ss3063862284	Nov 08, 2017 (151)
17	MCHAISSO	ss3065642709	Jan 10, 2018 (151)
18	URBANLAB	ss3650616175	Oct 12, 2018 (152)
19	PACBIO	ss3788164667	Jul 13, 2019 (153)
20	PACBIO	ss3788164668	Jul 13, 2019 (153)
21	PACBIO	ss3793130665	Jul 13, 2019 (153)
22	PACBIO	ss3798016341	Jul 13, 2019 (153)
23	EVA	ss3834808693	Apr 27, 2020 (154)
24	FSA-LAB	ss3984109611	Apr 26, 2021 (155)
25	EVA	ss3986073154	Apr 26, 2021 (155)
26	GNOMAD	ss4308831864	Apr 26, 2021 (155)
27	GNOMAD	ss4308831865	Apr 26, 2021 (155)
28	GNOMAD	ss4308831866	Apr 26, 2021 (155)
29	GNOMAD	ss4308831867	Apr 26, 2021 (155)
30	GNOMAD	ss4308831868	Apr 26, 2021 (155)
31	GNOMAD	ss4308831869	Apr 26, 2021 (155)
32	GNOMAD	ss4308831870	Apr 26, 2021 (155)
33	GNOMAD	ss4308831871	Apr 26, 2021 (155)
34	GNOMAD	ss4308831872	Apr 26, 2021 (155)
35	GNOMAD	ss4308831873	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5221743651	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5221743652	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5221743653	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5221743654	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5221743655	Apr 26, 2021 (155)
41	EVA	ss5237238018	Apr 26, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5302619867	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5302619868	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5302619869	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5302619870	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5302619871	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5302619872	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5495769224	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5495769225	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5495769226	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5495769227	Oct 16, 2022 (156)
52	EVA	ss5624069803	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5777411757	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5777411758	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5777411759	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5777411760	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5777411761	Oct 16, 2022 (156)
58	EVA	ss5800070581	Oct 16, 2022 (156)
59	EVA	ss5833797532	Oct 16, 2022 (156)
60	EVA	ss5833797533	Oct 16, 2022 (156)
61	EVA	ss5833797534	Oct 16, 2022 (156)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502968001 (NC_000017.11:17811403::A 49087/121824) Row 502968002 (NC_000017.11:17811403::AA 295/122368) Row 502968003 (NC_000017.11:17811403::AAA 11/122394)...	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 79712958 (NC_000017.10:17714717:AA: 14900/16622) Row 79712959 (NC_000017.10:17714717::A 979/16622) Row 79712960 (NC_000017.10:17714717:AAA: 50/16622)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 79712958 (NC_000017.10:17714717:AA: 14900/16622) Row 79712959 (NC_000017.10:17714717::A 979/16622) Row 79712960 (NC_000017.10:17714717:AAA: 50/16622)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 79712958 (NC_000017.10:17714717:AA: 14900/16622) Row 79712959 (NC_000017.10:17714717::A 979/16622) Row 79712960 (NC_000017.10:17714717:AAA: 50/16622)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 79712958 (NC_000017.10:17714717:AA: 14900/16622) Row 79712959 (NC_000017.10:17714717::A 979/16622) Row 79712960 (NC_000017.10:17714717:AAA: 50/16622)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 79712958 (NC_000017.10:17714717:AA: 14900/16622) Row 79712959 (NC_000017.10:17714717::A 979/16622) Row 79712960 (NC_000017.10:17714717:AAA: 50/16622)...	-	Apr 26, 2021 (155)
78	14KJPN Submission ignored due to conflicting rows: Row 111248861 (NC_000017.11:17811403:AA: 25247/28018) Row 111248862 (NC_000017.11:17811403::A 1594/28018) Row 111248863 (NC_000017.11:17811403:AAA: 89/28018)...	-	Oct 16, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 111248861 (NC_000017.11:17811403:AA: 25247/28018) Row 111248862 (NC_000017.11:17811403::A 1594/28018) Row 111248863 (NC_000017.11:17811403:AAA: 89/28018)...	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 111248861 (NC_000017.11:17811403:AA: 25247/28018) Row 111248862 (NC_000017.11:17811403::A 1594/28018) Row 111248863 (NC_000017.11:17811403:AAA: 89/28018)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 111248861 (NC_000017.11:17811403:AA: 25247/28018) Row 111248862 (NC_000017.11:17811403::A 1594/28018) Row 111248863 (NC_000017.11:17811403:AAA: 89/28018)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 111248861 (NC_000017.11:17811403:AA: 25247/28018) Row 111248862 (NC_000017.11:17811403::A 1594/28018) Row 111248863 (NC_000017.11:17811403:AAA: 89/28018)...	-	Oct 16, 2022 (156)
83	ALFA	NC_000017.11 - 17811404	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs879135217	Nov 08, 2017 (151)
rs35498154	May 11, 2012 (137)
rs59777050	May 24, 2008 (130)
rs150938068	May 11, 2012 (137)
rs371575431	May 13, 2013 (138)
rs57403489	May 04, 2012 (137)
rs72333113	Apr 25, 2013 (138)
rs140775417	May 04, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4308831873	NC_000017.11:17811403:AAAAAAA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4308831872	NC_000017.11:17811403:AAAAAA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4308831871	NC_000017.11:17811403:AAAAA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3788164667	NC_000017.10:17714717:AAAA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4308831870, ss5302619872	NC_000017.11:17811403:AAAA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss80443831	NC_000017.9:17655457:AAA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3015287160, ss3788164668, ss3793130665, ss3798016341, ss3984109611, ss5221743653, ss5833797534	NC_000017.10:17714717:AAA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3063862284, ss4308831869, ss5302619869, ss5495769224, ss5777411759	NC_000017.11:17811403:AAA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss81770795	NC_000017.9:17655458:AA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss664346324, ss3834808693, ss3986073154, ss5221743651, ss5624069803, ss5833797532	NC_000017.10:17714717:AA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1997088189	NC_000017.10:17714718:AA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3063862283, ss3065642709, ss4308831868, ss5237238018, ss5302619867, ss5495769226, ss5777411757	NC_000017.11:17811403:AA:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss294907241	NC_000017.9:17655459:A:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5221743654	NC_000017.10:17714717:A:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5302619868, ss5495769225, ss5777411761	NC_000017.11:17811403:A:	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss294907240	NC_000017.9:17655443::A	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5221743652, ss5833797533	NC_000017.10:17714717::A	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1997088187	NC_000017.10:17714719::A	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3650616175, ss4308831864, ss5302619870, ss5495769227, ss5777411758	NC_000017.11:17811403::A	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss40782899	NT_010718.16:17318107::A	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss40825099	NT_010718.16:17318108::A	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss40854201, ss77997941, ss79877685, ss95690411	NT_010718.16:17318109::A	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5221743655, ss5800070581	NC_000017.10:17714717::AA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4308831865, ss5302619871, ss5777411760	NC_000017.11:17811403::AA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4308831866	NC_000017.11:17811403::AAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4308831867	NC_000017.11:17811403::AAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
3950046848	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:17811403:AAAAAAAAAAAA… NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs34061744

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

Placement	(A)₁₈=	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 17	NC_000017.11:g.17811404_17811421=	NC_000017.11:g.17811414_17811421del	NC_000017.11:g.17811415_17811421del	NC_000017.11:g.17811416_17811421del	NC_000017.11:g.17811417_17811421del	NC_000017.11:g.17811418_17811421del	NC_000017.11:g.17811419_17811421del	NC_000017.11:g.17811420_17811421del	NC_000017.11:g.17811421del	NC_000017.11:g.17811421dup	NC_000017.11:g.17811420_17811421dup	NC_000017.11:g.17811419_17811421dup	NC_000017.11:g.17811418_17811421dup
GRCh37.p13 chr 17	NC_000017.10:g.17714718_17714735=	NC_000017.10:g.17714728_17714735del	NC_000017.10:g.17714729_17714735del	NC_000017.10:g.17714730_17714735del	NC_000017.10:g.17714731_17714735del	NC_000017.10:g.17714732_17714735del	NC_000017.10:g.17714733_17714735del	NC_000017.10:g.17714734_17714735del	NC_000017.10:g.17714735del	NC_000017.10:g.17714735dup	NC_000017.10:g.17714734_17714735dup	NC_000017.10:g.17714733_17714735dup	NC_000017.10:g.17714732_17714735dup
RAI1 RefSeqGene	NG_007101.2:g.134932_134949=	NG_007101.2:g.134942_134949del	NG_007101.2:g.134943_134949del	NG_007101.2:g.134944_134949del	NG_007101.2:g.134945_134949del	NG_007101.2:g.134946_134949del	NG_007101.2:g.134947_134949del	NG_007101.2:g.134948_134949del	NG_007101.2:g.134949del	NG_007101.2:g.134949dup	NG_007101.2:g.134948_134949dup	NG_007101.2:g.134947_134949dup	NG_007101.2:g.134946_134949dup
RAI1 transcript	NM_030665.4:c.1423_1440=	NM_030665.4:c.1433_1440del	NM_030665.4:c.1434_1440del	NM_030665.4:c.1435_1440del	NM_030665.4:c.1436_1440del	NM_030665.4:c.1437_1440del	NM_030665.4:c.1438_1440del	NM_030665.4:c.1439_1440del	NM_030665.4:c.*1440del	NM_030665.4:c.*1440dup	NM_030665.4:c.1439_1440dup	NM_030665.4:c.1438_1440dup	NM_030665.4:c.1437_1440dup
RAI1 transcript	NM_030665.3:c.1423_1440=	NM_030665.3:c.1433_1440del	NM_030665.3:c.1434_1440del	NM_030665.3:c.1435_1440del	NM_030665.3:c.1436_1440del	NM_030665.3:c.1437_1440del	NM_030665.3:c.1438_1440del	NM_030665.3:c.1439_1440del	NM_030665.3:c.*1440del	NM_030665.3:c.*1440dup	NM_030665.3:c.1439_1440dup	NM_030665.3:c.1438_1440dup	NM_030665.3:c.1437_1440dup
SREBF1 RefSeqGene	NG_029029.1:g.30591_30608=	NG_029029.1:g.30601_30608del	NG_029029.1:g.30602_30608del	NG_029029.1:g.30603_30608del	NG_029029.1:g.30604_30608del	NG_029029.1:g.30605_30608del	NG_029029.1:g.30606_30608del	NG_029029.1:g.30607_30608del	NG_029029.1:g.30608del	NG_029029.1:g.30608dup	NG_029029.1:g.30607_30608dup	NG_029029.1:g.30606_30608dup	NG_029029.1:g.30605_30608dup
SREBF1 transcript variant 2	NM_004176.5:c.1201_1218=	NM_004176.5:c.1211_1218del	NM_004176.5:c.1212_1218del	NM_004176.5:c.1213_1218del	NM_004176.5:c.1214_1218del	NM_004176.5:c.1215_1218del	NM_004176.5:c.1216_1218del	NM_004176.5:c.1217_1218del	NM_004176.5:c.*1218del	NM_004176.5:c.*1218dup	NM_004176.5:c.1217_1218dup	NM_004176.5:c.1216_1218dup	NM_004176.5:c.1215_1218dup
SREBF1 transcript variant 2	NM_004176.4:c.1201_1218=	NM_004176.4:c.1211_1218del	NM_004176.4:c.1212_1218del	NM_004176.4:c.1213_1218del	NM_004176.4:c.1214_1218del	NM_004176.4:c.1215_1218del	NM_004176.4:c.1216_1218del	NM_004176.4:c.1217_1218del	NM_004176.4:c.*1218del	NM_004176.4:c.*1218dup	NM_004176.4:c.1217_1218dup	NM_004176.4:c.1216_1218dup	NM_004176.4:c.1215_1218dup
SREBF1 transcript variant 1	NM_001005291.3:c.1201_1218=	NM_001005291.3:c.1211_1218del	NM_001005291.3:c.1212_1218del	NM_001005291.3:c.1213_1218del	NM_001005291.3:c.1214_1218del	NM_001005291.3:c.1215_1218del	NM_001005291.3:c.1216_1218del	NM_001005291.3:c.1217_1218del	NM_001005291.3:c.*1218del	NM_001005291.3:c.*1218dup	NM_001005291.3:c.1217_1218dup	NM_001005291.3:c.1216_1218dup	NM_001005291.3:c.1215_1218dup
SREBF1 transcript variant 1	NM_001005291.2:c.1201_1218=	NM_001005291.2:c.1211_1218del	NM_001005291.2:c.1212_1218del	NM_001005291.2:c.1213_1218del	NM_001005291.2:c.1214_1218del	NM_001005291.2:c.1215_1218del	NM_001005291.2:c.1216_1218del	NM_001005291.2:c.1217_1218del	NM_001005291.2:c.*1218del	NM_001005291.2:c.*1218dup	NM_001005291.2:c.1217_1218dup	NM_001005291.2:c.1216_1218dup	NM_001005291.2:c.1215_1218dup
SREBF1 transcript variant 3	NM_001321096.3:c.1201_1218=	NM_001321096.3:c.1211_1218del	NM_001321096.3:c.1212_1218del	NM_001321096.3:c.1213_1218del	NM_001321096.3:c.1214_1218del	NM_001321096.3:c.1215_1218del	NM_001321096.3:c.1216_1218del	NM_001321096.3:c.1217_1218del	NM_001321096.3:c.*1218del	NM_001321096.3:c.*1218dup	NM_001321096.3:c.1217_1218dup	NM_001321096.3:c.1216_1218dup	NM_001321096.3:c.1215_1218dup
SREBF1 transcript variant 3	NM_001321096.1:c.1201_1218=	NM_001321096.1:c.1211_1218del	NM_001321096.1:c.1212_1218del	NM_001321096.1:c.1213_1218del	NM_001321096.1:c.1214_1218del	NM_001321096.1:c.1215_1218del	NM_001321096.1:c.1216_1218del	NM_001321096.1:c.1217_1218del	NM_001321096.1:c.*1218del	NM_001321096.1:c.*1218dup	NM_001321096.1:c.1217_1218dup	NM_001321096.1:c.1216_1218dup	NM_001321096.1:c.1215_1218dup
SREBF1 transcript variant 4	NM_001388385.1:c.1201_1218=	NM_001388385.1:c.1211_1218del	NM_001388385.1:c.1212_1218del	NM_001388385.1:c.1213_1218del	NM_001388385.1:c.1214_1218del	NM_001388385.1:c.1215_1218del	NM_001388385.1:c.1216_1218del	NM_001388385.1:c.1217_1218del	NM_001388385.1:c.*1218del	NM_001388385.1:c.*1218dup	NM_001388385.1:c.1217_1218dup	NM_001388385.1:c.1216_1218dup	NM_001388385.1:c.1215_1218dup
SREBF1 transcript variant 6	NM_001388387.1:c.1201_1218=	NM_001388387.1:c.1211_1218del	NM_001388387.1:c.1212_1218del	NM_001388387.1:c.1213_1218del	NM_001388387.1:c.1214_1218del	NM_001388387.1:c.1215_1218del	NM_001388387.1:c.1216_1218del	NM_001388387.1:c.1217_1218del	NM_001388387.1:c.*1218del	NM_001388387.1:c.*1218dup	NM_001388387.1:c.1217_1218dup	NM_001388387.1:c.1216_1218dup	NM_001388387.1:c.1215_1218dup
SREBF1 transcript variant 8	NM_001388389.1:c.1201_1218=	NM_001388389.1:c.1211_1218del	NM_001388389.1:c.1212_1218del	NM_001388389.1:c.1213_1218del	NM_001388389.1:c.1214_1218del	NM_001388389.1:c.1215_1218del	NM_001388389.1:c.1216_1218del	NM_001388389.1:c.1217_1218del	NM_001388389.1:c.*1218del	NM_001388389.1:c.*1218dup	NM_001388389.1:c.1217_1218dup	NM_001388389.1:c.1216_1218dup	NM_001388389.1:c.1215_1218dup
SREBF1 transcript variant 9	NM_001388390.1:c.1201_1218=	NM_001388390.1:c.1211_1218del	NM_001388390.1:c.1212_1218del	NM_001388390.1:c.1213_1218del	NM_001388390.1:c.1214_1218del	NM_001388390.1:c.1215_1218del	NM_001388390.1:c.1216_1218del	NM_001388390.1:c.1217_1218del	NM_001388390.1:c.*1218del	NM_001388390.1:c.*1218dup	NM_001388390.1:c.1217_1218dup	NM_001388390.1:c.1216_1218dup	NM_001388390.1:c.1215_1218dup
SREBF1 transcript variant 10	NM_001388391.1:c.1201_1218=	NM_001388391.1:c.1211_1218del	NM_001388391.1:c.1212_1218del	NM_001388391.1:c.1213_1218del	NM_001388391.1:c.1214_1218del	NM_001388391.1:c.1215_1218del	NM_001388391.1:c.1216_1218del	NM_001388391.1:c.1217_1218del	NM_001388391.1:c.*1218del	NM_001388391.1:c.*1218dup	NM_001388391.1:c.1217_1218dup	NM_001388391.1:c.1216_1218dup	NM_001388391.1:c.1215_1218dup
SREBF1 transcript variant 5	NM_001388386.1:c.1026_1043=	NM_001388386.1:c.1036_1043del	NM_001388386.1:c.1037_1043del	NM_001388386.1:c.1038_1043del	NM_001388386.1:c.1039_1043del	NM_001388386.1:c.1040_1043del	NM_001388386.1:c.1041_1043del	NM_001388386.1:c.1042_1043del	NM_001388386.1:c.*1043del	NM_001388386.1:c.*1043dup	NM_001388386.1:c.1042_1043dup	NM_001388386.1:c.1041_1043dup	NM_001388386.1:c.1040_1043dup
SREBF1 transcript variant 7	NM_001388388.1:c.1026_1043=	NM_001388388.1:c.1036_1043del	NM_001388388.1:c.1037_1043del	NM_001388388.1:c.1038_1043del	NM_001388388.1:c.1039_1043del	NM_001388388.1:c.1040_1043del	NM_001388388.1:c.1041_1043del	NM_001388388.1:c.1042_1043del	NM_001388388.1:c.*1043del	NM_001388388.1:c.*1043dup	NM_001388388.1:c.1042_1043dup	NM_001388388.1:c.1041_1043dup	NM_001388388.1:c.1040_1043dup
SREBF1 transcript variant 14	NR_170943.1:n.4626_4643=	NR_170943.1:n.4636_4643del	NR_170943.1:n.4637_4643del	NR_170943.1:n.4638_4643del	NR_170943.1:n.4639_4643del	NR_170943.1:n.4640_4643del	NR_170943.1:n.4641_4643del	NR_170943.1:n.4642_4643del	NR_170943.1:n.4643del	NR_170943.1:n.4643dup	NR_170943.1:n.4642_4643dup	NR_170943.1:n.4641_4643dup	NR_170943.1:n.4640_4643dup
SREBF1 transcript variant 11	NM_001388392.1:c.1201_1218=	NM_001388392.1:c.1211_1218del	NM_001388392.1:c.1212_1218del	NM_001388392.1:c.1213_1218del	NM_001388392.1:c.1214_1218del	NM_001388392.1:c.1215_1218del	NM_001388392.1:c.1216_1218del	NM_001388392.1:c.1217_1218del	NM_001388392.1:c.*1218del	NM_001388392.1:c.*1218dup	NM_001388392.1:c.1217_1218dup	NM_001388392.1:c.1216_1218dup	NM_001388392.1:c.1215_1218dup
SREBF1 transcript variant 12	NM_001388393.1:c.1201_1218=	NM_001388393.1:c.1211_1218del	NM_001388393.1:c.1212_1218del	NM_001388393.1:c.1213_1218del	NM_001388393.1:c.1214_1218del	NM_001388393.1:c.1215_1218del	NM_001388393.1:c.1216_1218del	NM_001388393.1:c.1217_1218del	NM_001388393.1:c.*1218del	NM_001388393.1:c.*1218dup	NM_001388393.1:c.1217_1218dup	NM_001388393.1:c.1216_1218dup	NM_001388393.1:c.1215_1218dup
SREBF1 transcript variant 13	NM_001388394.1:c.1201_1218=	NM_001388394.1:c.1211_1218del	NM_001388394.1:c.1212_1218del	NM_001388394.1:c.1213_1218del	NM_001388394.1:c.1214_1218del	NM_001388394.1:c.1215_1218del	NM_001388394.1:c.1216_1218del	NM_001388394.1:c.1217_1218del	NM_001388394.1:c.*1218del	NM_001388394.1:c.*1218dup	NM_001388394.1:c.1217_1218dup	NM_001388394.1:c.1216_1218dup	NM_001388394.1:c.1215_1218dup
SREBF1 transcript variant 16	NR_170945.1:n.3921_3938=	NR_170945.1:n.3931_3938del	NR_170945.1:n.3932_3938del	NR_170945.1:n.3933_3938del	NR_170945.1:n.3934_3938del	NR_170945.1:n.3935_3938del	NR_170945.1:n.3936_3938del	NR_170945.1:n.3937_3938del	NR_170945.1:n.3938del	NR_170945.1:n.3938dup	NR_170945.1:n.3937_3938dup	NR_170945.1:n.3936_3938dup	NR_170945.1:n.3935_3938dup
SREBF1 transcript variant 15	NR_170944.1:n.3831_3848=	NR_170944.1:n.3841_3848del	NR_170944.1:n.3842_3848del	NR_170944.1:n.3843_3848del	NR_170944.1:n.3844_3848del	NR_170944.1:n.3845_3848del	NR_170944.1:n.3846_3848del	NR_170944.1:n.3847_3848del	NR_170944.1:n.3848del	NR_170944.1:n.3848dup	NR_170944.1:n.3847_3848dup	NR_170944.1:n.3846_3848dup	NR_170944.1:n.3845_3848dup
SREBF1 transcript variant 17	NR_170990.1:n.3777_3794=	NR_170990.1:n.3787_3794del	NR_170990.1:n.3788_3794del	NR_170990.1:n.3789_3794del	NR_170990.1:n.3790_3794del	NR_170990.1:n.3791_3794del	NR_170990.1:n.3792_3794del	NR_170990.1:n.3793_3794del	NR_170990.1:n.3794del	NR_170990.1:n.3794dup	NR_170990.1:n.3793_3794dup	NR_170990.1:n.3792_3794dup	NR_170990.1:n.3791_3794dup
RAI1 transcript variant X1	XM_017024028.3:c.1423_1440=	XM_017024028.3:c.1433_1440del	XM_017024028.3:c.1434_1440del	XM_017024028.3:c.1435_1440del	XM_017024028.3:c.1436_1440del	XM_017024028.3:c.1437_1440del	XM_017024028.3:c.1438_1440del	XM_017024028.3:c.1439_1440del	XM_017024028.3:c.*1440del	XM_017024028.3:c.*1440dup	XM_017024028.3:c.1439_1440dup	XM_017024028.3:c.1438_1440dup	XM_017024028.3:c.1437_1440dup
RAI1 transcript variant X6	XM_017024027.2:c.1423_1440=	XM_017024027.2:c.1433_1440del	XM_017024027.2:c.1434_1440del	XM_017024027.2:c.1435_1440del	XM_017024027.2:c.1436_1440del	XM_017024027.2:c.1437_1440del	XM_017024027.2:c.1438_1440del	XM_017024027.2:c.1439_1440del	XM_017024027.2:c.*1440del	XM_017024027.2:c.*1440dup	XM_017024027.2:c.1439_1440dup	XM_017024027.2:c.1438_1440dup	XM_017024027.2:c.1437_1440dup
RAI1 transcript variant X2	XM_047435151.1:c.1423_1440=	XM_047435151.1:c.1433_1440del	XM_047435151.1:c.1434_1440del	XM_047435151.1:c.1435_1440del	XM_047435151.1:c.1436_1440del	XM_047435151.1:c.1437_1440del	XM_047435151.1:c.1438_1440del	XM_047435151.1:c.1439_1440del	XM_047435151.1:c.*1440del	XM_047435151.1:c.*1440dup	XM_047435151.1:c.1439_1440dup	XM_047435151.1:c.1438_1440dup	XM_047435151.1:c.1437_1440dup
RAI1 transcript variant X5	XM_047435149.1:c.1423_1440=	XM_047435149.1:c.1433_1440del	XM_047435149.1:c.1434_1440del	XM_047435149.1:c.1435_1440del	XM_047435149.1:c.1436_1440del	XM_047435149.1:c.1437_1440del	XM_047435149.1:c.1438_1440del	XM_047435149.1:c.1439_1440del	XM_047435149.1:c.*1440del	XM_047435149.1:c.*1440dup	XM_047435149.1:c.1439_1440dup	XM_047435149.1:c.1438_1440dup	XM_047435149.1:c.1437_1440dup
RAI1 transcript variant X3	XM_047435152.1:c.1423_1440=	XM_047435152.1:c.1433_1440del	XM_047435152.1:c.1434_1440del	XM_047435152.1:c.1435_1440del	XM_047435152.1:c.1436_1440del	XM_047435152.1:c.1437_1440del	XM_047435152.1:c.1438_1440del	XM_047435152.1:c.1439_1440del	XM_047435152.1:c.*1440del	XM_047435152.1:c.*1440dup	XM_047435152.1:c.1439_1440dup	XM_047435152.1:c.1438_1440dup	XM_047435152.1:c.1437_1440dup
RAI1 transcript variant X4	XM_047435153.1:c.1423_1440=	XM_047435153.1:c.1433_1440del	XM_047435153.1:c.1434_1440del	XM_047435153.1:c.1435_1440del	XM_047435153.1:c.1436_1440del	XM_047435153.1:c.1437_1440del	XM_047435153.1:c.1438_1440del	XM_047435153.1:c.1439_1440del	XM_047435153.1:c.*1440del	XM_047435153.1:c.*1440dup	XM_047435153.1:c.1439_1440dup	XM_047435153.1:c.1438_1440dup	XM_047435153.1:c.1437_1440dup
RAI1 transcript variant X7	XM_047435150.1:c.1423_1440=	XM_047435150.1:c.1433_1440del	XM_047435150.1:c.1434_1440del	XM_047435150.1:c.1435_1440del	XM_047435150.1:c.1436_1440del	XM_047435150.1:c.1437_1440del	XM_047435150.1:c.1438_1440del	XM_047435150.1:c.1439_1440del	XM_047435150.1:c.*1440del	XM_047435150.1:c.*1440dup	XM_047435150.1:c.1439_1440dup	XM_047435150.1:c.1438_1440dup	XM_047435150.1:c.1437_1440dup
RAI1 transcript variant 1	NM_017574.1:c.524_541=	NM_017574.1:c.534_541del	NM_017574.1:c.535_541del	NM_017574.1:c.536_541del	NM_017574.1:c.537_541del	NM_017574.1:c.538_541del	NM_017574.1:c.539_541del	NM_017574.1:c.540_541del	NM_017574.1:c.*541del	NM_017574.1:c.*541dup	NM_017574.1:c.540_541dup	NM_017574.1:c.539_541dup	NM_017574.1:c.538_541dup
SREBF1 transcript variant X1	XM_047436580.1:c.1201_1218=	XM_047436580.1:c.1211_1218del	XM_047436580.1:c.1212_1218del	XM_047436580.1:c.1213_1218del	XM_047436580.1:c.1214_1218del	XM_047436580.1:c.1215_1218del	XM_047436580.1:c.1216_1218del	XM_047436580.1:c.1217_1218del	XM_047436580.1:c.*1218del	XM_047436580.1:c.*1218dup	XM_047436580.1:c.1217_1218dup	XM_047436580.1:c.1216_1218dup	XM_047436580.1:c.1215_1218dup
RAI1 transcript variant 2	NM_152256.1:c.113_130=	NM_152256.1:c.123_130del	NM_152256.1:c.124_130del	NM_152256.1:c.125_130del	NM_152256.1:c.126_130del	NM_152256.1:c.127_130del	NM_152256.1:c.128_130del	NM_152256.1:c.129_130del	NM_152256.1:c.*130del	NM_152256.1:c.*130dup	NM_152256.1:c.129_130dup	NM_152256.1:c.128_130dup	NM_152256.1:c.127_130dup

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs34061744