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Select item 14915891221.

rs1491589122 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,G [Show Flanks]
Chromosome:: 7:37848220 (GRCh38)
7:37887823 (GRCh37)
Canonical SPDI:: NC_000007.14:37848220:G:GCG,NC_000007.14:37848220:G:GG
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.02273/3 (NorthernSweden)
HGVS:: NC_000007.14:g.37848221_37848222insCG, NC_000007.14:g.37848221dup, NC_000007.13:g.37887823_37887824insCG, NC_000007.13:g.37887823dup, NG_015893.1:g.4625_4626insCG, NG_015893.1:g.4625dup

Select item 14915850362.

rs1491585036 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:37848227 (GRCh38)
7:37887829 (GRCh37)
Canonical SPDI:: NC_000007.14:37848225:AGA:A
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.02023/240 (ALFA)
-=0.09704/374 (ALSPAC)
-=0.10194/378 (TWINSUK)
-=0.12284/783 (TOMMO)
-=0.24228/361 (GnomAD)
HGVS:: NC_000007.14:g.37848227_37848228del, NC_000007.13:g.37887829_37887830del, NG_015893.1:g.4631_4632del

Select item 14915817373.

rs1491581737 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:37849869 (GRCh38)
7:37889471 (GRCh37)
Canonical SPDI:: NC_000007.14:37849868:CA:
Gene:: NME8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.377761/4481 (ALFA)
CA=0.383587/38684 (GnomAD)
-=0.398999/6386 (TOMMO)
HGVS:: NC_000007.14:g.37849869_37849870del, NC_000007.13:g.37889471_37889472del, NG_015893.1:g.6273_6274del

Select item 14915700364.

rs1491570036 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:37848214 (GRCh38)
7:37887817 (GRCh37)
Canonical SPDI:: NC_000007.14:37848214:G:GG
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.0039/4 (GnomAD)
G=0.0273/3 (NorthernSweden)
HGVS:: NC_000007.14:g.37848215dup, NC_000007.13:g.37887817dup, NG_015893.1:g.4619dup

Select item 14915699685.

rs1491569968 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,AAA,AAAA,AAAAGAAGAGGAAAAGAAGAAGAAAAGAAGAAGAAAA,AAGGAA,AAGGAAGAA,AAGGAAGAAGAA,AC [Show Flanks]
Chromosome:: 7:37848065 (GRCh38)
7:37887668 (GRCh37)
Canonical SPDI:: NC_000007.14:37848065::AA,NC_000007.14:37848065::AAA,NC_000007.14:37848065::AAAA,NC_000007.14:37848065::AAAAGAAGAGGAAAAGAAGAAGAAAAGAAGAAGAAAA,NC_000007.14:37848065::AAGGAA,NC_000007.14:37848065::AAGGAAGAA,NC_000007.14:37848065::AAGGAAGAAGAA,NC_000007.14:37848065::AC
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AAAAGAAGAGGAAAAGAAGAAGAAAAGAAGAAGAAAA=0.0001/1 (TOMMO)
HGVS:: NC_000007.14:g.37848065_37848066insAA, NC_000007.14:g.37848065_37848066insAAA, NC_000007.14:g.37848065_37848066insAAAA, NC_000007.14:g.37848065_37848066insAAAAGAAGAGGAAAAGAAGAAGAAAAGAAGAAGAAAA, NC_000007.14:g.37848065_37848066insAAGGAA, NC_000007.14:g.37848065_37848066insAAGGAAGAA, NC_000007.14:g.37848065_37848066insAAGGAAGAAGAA, NC_000007.14:g.37848065_37848066insAC, NC_000007.13:g.37887667_37887668insAA, NC_000007.13:g.37887667_37887668insAAA, NC_000007.13:g.37887667_37887668insAAAA, NC_000007.13:g.37887667_37887668insAAAAGAAGAGGAAAAGAAGAAGAAAAGAAGAAGAAAA, NC_000007.13:g.37887667_37887668insAAGGAA, NC_000007.13:g.37887667_37887668insAAGGAAGAA, NC_000007.13:g.37887667_37887668insAAGGAAGAAGAA, NC_000007.13:g.37887667_37887668insAC, NG_015893.1:g.4469_4470insAA, NG_015893.1:g.4469_4470insAAA, NG_015893.1:g.4469_4470insAAAA, NG_015893.1:g.4469_4470insAAAAGAAGAGGAAAAGAAGAAGAAAAGAAGAAGAAAA, NG_015893.1:g.4469_4470insAAGGAA, NG_015893.1:g.4469_4470insAAGGAAGAA, NG_015893.1:g.4469_4470insAAGGAAGAAGAA, NG_015893.1:g.4469_4470insAC

Select item 14915623496.

rs1491562349 has merged into rs1411412701 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGAGAGA [Show Flanks]
Chromosome:: 7:37882575 (GRCh38)
7:37922177 (GRCh37)
Canonical SPDI:: NC_000007.14:37882573:AGA:A,NC_000007.14:37882573:AGA:AGAGA,NC_000007.14:37882573:AGA:AGAGAGAGAGA
Gene:: NME8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
-=0.000053/2 (GnomAD)
HGVS:: NC_000007.14:g.37882575_37882576del, NC_000007.14:g.37882575_37882576dup, NC_000007.14:g.37882575GA[5], NC_000007.13:g.37922177_37922178del, NC_000007.13:g.37922177_37922178dup, NC_000007.13:g.37922177GA[5], NG_015893.1:g.38979_38980del, NG_015893.1:g.38979_38980dup, NG_015893.1:g.38979GA[5]

Select item 14915610287.

rs1491561028 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:37848215 (GRCh38)
7:37887817 (GRCh37)
Canonical SPDI:: NC_000007.14:37848213:AGA:A
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.37848215_37848216del, NC_000007.13:g.37887817_37887818del, NG_015893.1:g.4619_4620del

Select item 14915550978.

rs1491555097 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 7:37848054 (GRCh38)
7:37887657 (GRCh37)
Canonical SPDI:: NC_000007.14:37848054:A:AGA
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000007.14:g.37848055_37848056insGA, NC_000007.13:g.37887657_37887658insGA, NG_015893.1:g.4459_4460insGA

Select item 14915505499.

rs1491550549 has merged into rs1491535489 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 7:37848218 (GRCh38)
7:37887820 (GRCh37)
Canonical SPDI:: NC_000007.14:37848216:AGA:A,NC_000007.14:37848216:AGA:AGAGA
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000007.14:g.37848218_37848219del, NC_000007.14:g.37848218_37848219dup, NC_000007.13:g.37887820_37887821del, NC_000007.13:g.37887820_37887821dup, NG_015893.1:g.4622_4623del, NG_015893.1:g.4622_4623dup

Select item 149153582710.

rs1491535827 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:37848363 (GRCh38)
7:37887965 (GRCh37)
Canonical SPDI:: NC_000007.14:37848361:ACA:A
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00034/4 (ALFA)
-=0.00048/13 (TOMMO)
HGVS:: NC_000007.14:g.37848363_37848364del, NC_000007.13:g.37887965_37887966del, NG_015893.1:g.4767_4768del

Select item 149153548911.

rs1491535489 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 7:37848218 (GRCh38)
7:37887820 (GRCh37)
Canonical SPDI:: NC_000007.14:37848216:AGA:A,NC_000007.14:37848216:AGA:AGAGA
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000007.14:g.37848218_37848219del, NC_000007.14:g.37848218_37848219dup, NC_000007.13:g.37887820_37887821del, NC_000007.13:g.37887820_37887821dup, NG_015893.1:g.4622_4623del, NG_015893.1:g.4622_4623dup

Select item 149152861412.

rs1491528614 has merged into rs35685455 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 7:37879138 (GRCh38)
7:37918740 (GRCh37)
Canonical SPDI:: NC_000007.14:37879126:TATATATATATATAT:TATATATATAT,NC_000007.14:37879126:TATATATATATATAT:TATATATATATAT,NC_000007.14:37879126:TATATATATATATAT:TATATATATATATATAT,NC_000007.14:37879126:TATATATATATATAT:TATATATATATATATATAT,NC_000007.14:37879126:TATATATATATATAT:TATATATATATATATATATAT
Gene:: NME8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TA=0.05/2 (GENOME_DK)
TA=0.095/57 (NorthernSweden)
TA=0.32407/70 (Vietnamese)
HGVS:: NC_000007.14:g.37879128AT[5], NC_000007.14:g.37879128AT[6], NC_000007.14:g.37879128AT[8], NC_000007.14:g.37879128AT[9], NC_000007.14:g.37879128AT[10], NC_000007.13:g.37918730AT[5], NC_000007.13:g.37918730AT[6], NC_000007.13:g.37918730AT[8], NC_000007.13:g.37918730AT[9], NC_000007.13:g.37918730AT[10], NG_015893.1:g.35532AT[5], NG_015893.1:g.35532AT[6], NG_015893.1:g.35532AT[8], NG_015893.1:g.35532AT[9], NG_015893.1:g.35532AT[10]

Select item 149148780313.

rs1491487803 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:37878647 (GRCh38)
7:37918249 (GRCh37)
Canonical SPDI:: NC_000007.14:37878645:ACA:A
Gene:: NME8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.37878647_37878648del, NC_000007.13:g.37918249_37918250del, NG_015893.1:g.35051_35052del

Select item 149148658614.

rs1491486586 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:37875419 (GRCh38)
7:37915022 (GRCh37)
Canonical SPDI:: NC_000007.14:37875419::A
Gene:: NME8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.37875419_37875420insA, NC_000007.13:g.37915021_37915022insA, NG_015893.1:g.31823_31824insA

Select item 149147520615.

rs1491475206 has merged into rs35884288 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:37870597 (GRCh38)
7:37910199 (GRCh37)
Canonical SPDI:: NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:37870588:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NME8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.37870597_37870608del, NC_000007.14:g.37870600_37870608del, NC_000007.14:g.37870603_37870608del, NC_000007.14:g.37870604_37870608del, NC_000007.14:g.37870605_37870608del, NC_000007.14:g.37870606_37870608del, NC_000007.14:g.37870607_37870608del, NC_000007.14:g.37870608del, NC_000007.14:g.37870608dup, NC_000007.14:g.37870607_37870608dup, NC_000007.14:g.37870605_37870608dup, NC_000007.14:g.37870604_37870608dup, NC_000007.13:g.37910199_37910210del, NC_000007.13:g.37910202_37910210del, NC_000007.13:g.37910205_37910210del, NC_000007.13:g.37910206_37910210del, NC_000007.13:g.37910207_37910210del, NC_000007.13:g.37910208_37910210del, NC_000007.13:g.37910209_37910210del, NC_000007.13:g.37910210del, NC_000007.13:g.37910210dup, NC_000007.13:g.37910209_37910210dup, NC_000007.13:g.37910207_37910210dup, NC_000007.13:g.37910206_37910210dup, NG_015893.1:g.27001_27012del, NG_015893.1:g.27004_27012del, NG_015893.1:g.27007_27012del, NG_015893.1:g.27008_27012del, NG_015893.1:g.27009_27012del, NG_015893.1:g.27010_27012del, NG_015893.1:g.27011_27012del, NG_015893.1:g.27012del, NG_015893.1:g.27012dup, NG_015893.1:g.27011_27012dup, NG_015893.1:g.27009_27012dup, NG_015893.1:g.27008_27012dup

Select item 149144173616.

rs1491441736 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:37847383 (GRCh38)
7:37886985 (GRCh37)
Canonical SPDI:: NC_000007.14:37847380:AGAG:AG
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000007.14:g.37847381AG[1], NC_000007.13:g.37886983AG[1], NG_015893.1:g.3785AG[1]

Select item 149143908817.

rs1491439088 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:37870588 (GRCh38)
7:37910190 (GRCh37)
Canonical SPDI:: NC_000007.14:37870587:CA:
Gene:: NME8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.37870588_37870589del, NC_000007.13:g.37910190_37910191del, NG_015893.1:g.26992_26993del

Select item 149142392218.

rs1491423922 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAG [Show Flanks]
Chromosome:: 7:37873374 (GRCh38)
7:37912977 (GRCh37)
Canonical SPDI:: NC_000007.14:37873374::AAAG
Gene:: NME8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAG=0./0 (ALFA)
AAAG=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.37873374_37873375insAAAG, NC_000007.13:g.37912976_37912977insAAAG, NG_015893.1:g.29778_29779insAAAG

Select item 149140943819.

rs1491409438 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 7:37848065 (GRCh38)
7:37887667 (GRCh37)
Canonical SPDI:: NC_000007.14:37848064:GG:
Gene:: NME8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.37848065_37848066del, NC_000007.13:g.37887667_37887668del, NG_015893.1:g.4469_4470del

Select item 149140513620.

rs1491405136 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 7:37875420 (GRCh38)
7:37915022 (GRCh37)
Canonical SPDI:: NC_000007.14:37875418:CCC:C,NC_000007.14:37875418:CCC:CCCCC
Gene:: NME8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
-=0.00055/1 (Korea1K)
HGVS:: NC_000007.14:g.37875420_37875421del, NC_000007.14:g.37875420_37875421dup, NC_000007.13:g.37915022_37915023del, NC_000007.13:g.37915022_37915023dup, NG_015893.1:g.31824_31825del, NG_015893.1:g.31824_31825dup

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