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Select item 14912765881.

rs1491276588 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:49839271 (GRCh38)
6:49806985 (GRCh37)
Canonical SPDI:: NC_000006.12:49839271:C:CC
Gene:: CRISP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.00062/4 (1000Genomes)
C=0.00134/50 (GnomAD)
HGVS:: NC_000006.12:g.49839272dup, NC_000006.11:g.49806985dup

Select item 14912453352.

rs1491245335 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:49839272 (GRCh38)
6:49806985 (GRCh37)
Canonical SPDI:: NC_000006.12:49839270:ACA:A
Gene:: CRISP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.49839272_49839273del, NC_000006.11:g.49806985_49806986del

Select item 14912443763.

rs1491244376 has merged into rs3839535 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:49862826 (GRCh38)
6:49830539 (GRCh37)
Canonical SPDI:: NC_000006.12:49862816:AAAAAAAAAAA:AAAAAAAAA,NC_000006.12:49862816:AAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:49862816:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:49862816:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:49862816:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.49862826_49862827del, NC_000006.12:g.49862827del, NC_000006.12:g.49862827dup, NC_000006.12:g.49862826_49862827dup, NC_000006.12:g.49862825_49862827dup, NC_000006.11:g.49830539_49830540del, NC_000006.11:g.49830540del, NC_000006.11:g.49830540dup, NC_000006.11:g.49830539_49830540dup, NC_000006.11:g.49830538_49830540dup

Select item 14912320334.

rs1491232033 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:49848160 (GRCh38)
6:49815873 (GRCh37)
Canonical SPDI:: NC_000006.12:49848158:TAT:T
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000039/4 (ExAC)
-=0.000123/19 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49848160_49848161del, NC_000006.11:g.49815873_49815874del

Select item 14911155585.

rs1491115558 has merged into rs55712975 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:49871138 (GRCh38)
6:49838851 (GRCh37)
Canonical SPDI:: NC_000006.12:49871129:AAAAAAAAAA:AAAAAAAA,NC_000006.12:49871129:AAAAAAAAAA:AAAAAAAAA,NC_000006.12:49871129:AAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:49871129:AAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:49871129:AAAAAAAAAA:AAAAAAAAAAAAA
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0256/128 (1000Genomes)
HGVS:: NC_000006.12:g.49871138_49871139del, NC_000006.12:g.49871139del, NC_000006.12:g.49871139dup, NC_000006.12:g.49871138_49871139dup, NC_000006.12:g.49871137_49871139dup, NC_000006.11:g.49838851_49838852del, NC_000006.11:g.49838852del, NC_000006.11:g.49838852dup, NC_000006.11:g.49838851_49838852dup, NC_000006.11:g.49838850_49838852dup

Select item 14910138156.

rs1491013815 has merged into rs56006658 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 6:49837912 (GRCh38)
6:49805625 (GRCh37)
Canonical SPDI:: NC_000006.12:49837901:AAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:49837901:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:49837901:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:49837901:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:49837901:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:49837901:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:49837901:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:49837901:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: CRISP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.09824/492 (1000Genomes)
HGVS:: NC_000006.12:g.49837912_49837913del, NC_000006.12:g.49837913del, NC_000006.12:g.49837913dup, NC_000006.12:g.49837912_49837913dup, NC_000006.12:g.49837911_49837913dup, NC_000006.12:g.49837910_49837913dup, NC_000006.12:g.49837909_49837913dup, NC_000006.12:g.49837908_49837913dup, NC_000006.11:g.49805625_49805626del, NC_000006.11:g.49805626del, NC_000006.11:g.49805626dup, NC_000006.11:g.49805625_49805626dup, NC_000006.11:g.49805624_49805626dup, NC_000006.11:g.49805623_49805626dup, NC_000006.11:g.49805622_49805626dup, NC_000006.11:g.49805621_49805626dup

Select item 14909824967.

rs1490982496 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 6:49848283 (GRCh38)
6:49815996 (GRCh37)
Canonical SPDI:: NC_000006.12:49848282:GC:
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.49848283_49848284del, NC_000006.11:g.49815996_49815997del, NM_001131.3:c.211_212del, NM_001131.2:c.211_212del, NM_001205220.2:c.211_212del, NM_001205220.1:c.211_212del, NM_170609.2:c.211_212del, NM_170609.1:c.211_212del, NP_001122.2:p.Ala71fs, NP_001192149.1:p.Ala71fs, NP_733758.1:p.Ala71fs

Select item 14908305368.

rs1490830536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:49847967 (GRCh38)
6:49815680 (GRCh37)
Canonical SPDI:: NC_000006.12:49847966:G:A,NC_000006.12:49847966:G:C
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49847967G>A, NC_000006.12:g.49847967G>C, NC_000006.11:g.49815680G>A, NC_000006.11:g.49815680G>C, XM_017010320.3:c.-254C>T, XM_017010320.3:c.-254C>G, XM_017010320.2:c.-254C>T, XM_017010320.2:c.-254C>G, XM_017010320.1:c.-254C>T, XM_017010320.1:c.-254C>G

Select item 14907178179.

rs1490717817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49849953 (GRCh38)
6:49817666 (GRCh37)
Canonical SPDI:: NC_000006.12:49849952:T:C
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.49849953T>C, NC_000006.11:g.49817666T>C

Select item 149060562810.

rs1490605628 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:49840723 (GRCh38)
6:49808436 (GRCh37)
Canonical SPDI:: NC_000006.12:49840721:CTC:C
Gene:: CRISP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49840723_49840724del, NC_000006.11:g.49808436_49808437del

Select item 149053387011.

rs1490533870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:49868900 (GRCh38)
6:49836613 (GRCh37)
Canonical SPDI:: NC_000006.12:49868899:A:T
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49868900A>T, NC_000006.11:g.49836613A>T

Select item 149048849312.

rs1490488493 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:49847947 (GRCh38)
6:49815661 (GRCh37)
Canonical SPDI:: NC_000006.12:49847947:TTTTTT:TTTTTTT
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.49847953dup, NC_000006.11:g.49815666dup, XM_017010320.3:c.-235dup, XM_017010320.2:c.-235dup, XM_017010320.1:c.-235dup

Select item 149021847413.

rs1490218474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49856210 (GRCh38)
6:49823923 (GRCh37)
Canonical SPDI:: NC_000006.12:49856209:G:A
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49856210G>A, NC_000006.11:g.49823923G>A

Select item 149011029514.

rs1490110295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:49863058 (GRCh38)
6:49830771 (GRCh37)
Canonical SPDI:: NC_000006.12:49863057:C:G
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.49863058C>G, NC_000006.11:g.49830771C>G

Select item 149004083815.

rs1490040838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:49835414 (GRCh38)
6:49803127 (GRCh37)
Canonical SPDI:: NC_000006.12:49835413:A:T
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49835414A>T, NC_000006.11:g.49803127A>T, XM_011514315.4:c.346T>A, XM_011514315.3:c.346T>A, XM_011514315.2:c.346T>A, XM_011514315.1:c.346T>A, NM_001131.3:c.652T>A, NM_001131.2:c.652T>A, XM_017010320.3:c.346T>A, XM_017010320.2:c.346T>A, XM_017010320.1:c.346T>A, XM_017010321.3:c.346T>A, XM_017010321.2:c.346T>A, XM_017010321.1:c.346T>A, NM_001205220.2:c.652T>A, NM_001205220.1:c.652T>A, NM_170609.2:c.*26T>A, NM_170609.1:c.*26T>A, XP_011512617.1:p.Phe116Ile, NP_001122.2:p.Phe218Ile, XP_016865809.1:p.Phe116Ile, XP_016865810.1:p.Phe116Ile, NP_001192149.1:p.Phe218Ile

Select item 148996757516.

rs1489967575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:49864435 (GRCh38)
6:49832148 (GRCh37)
Canonical SPDI:: NC_000006.12:49864434:G:T
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00089/4 (ALFA)
T=0.00067/3 (Estonian)
T=0.00188/53 (TOMMO)
HGVS:: NC_000006.12:g.49864435G>T, NC_000006.11:g.49832148G>T

Select item 148991648917.

rs1489916489 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:49834335 (GRCh38)
6:49802048 (GRCh37)
Canonical SPDI:: NC_000006.12:49834332:TATA:TA
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49834333TA[1], NC_000006.11:g.49802046TA[1], NM_001131.3:c.*980TA[1], NM_001131.2:c.*980TA[1], NM_001205220.2:c.*980TA[1], NM_001205220.1:c.*980TA[1], NM_170609.2:c.*1104TA[1], NM_170609.1:c.*1104TA[1]

Select item 148971796318.

rs1489717963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49835400 (GRCh38)
6:49803113 (GRCh37)
Canonical SPDI:: NC_000006.12:49835399:T:C
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.49835400T>C, NC_000006.11:g.49803113T>C, XM_011514315.4:c.360A>G, XM_011514315.3:c.360A>G, XM_011514315.2:c.360A>G, XM_011514315.1:c.360A>G, NM_001131.3:c.666A>G, NM_001131.2:c.666A>G, XM_017010320.3:c.360A>G, XM_017010320.2:c.360A>G, XM_017010320.1:c.360A>G, XM_017010321.3:c.360A>G, XM_017010321.2:c.360A>G, XM_017010321.1:c.360A>G, NM_001205220.2:c.666A>G, NM_001205220.1:c.666A>G, NM_170609.2:c.*40A>G, NM_170609.1:c.*40A>G, XP_011512617.1:p.Ile120Met, NP_001122.2:p.Ile222Met, XP_016865809.1:p.Ile120Met, XP_016865810.1:p.Ile120Met, NP_001192149.1:p.Ile222Met

Select item 148966278919.

rs1489662789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49855832 (GRCh38)
6:49823545 (GRCh37)
Canonical SPDI:: NC_000006.12:49855831:G:A
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.49855832G>A, NC_000006.11:g.49823545G>A

Select item 148960836920.

rs1489608369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49850250 (GRCh38)
6:49817963 (GRCh37)
Canonical SPDI:: NC_000006.12:49850249:T:C
Gene:: CRISP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49850250T>C, NC_000006.11:g.49817963T>C

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