Links from Gene
Items: 1 to 20 of 1000
1.
rs1491575523 has merged into rs58498056 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:101469840
(GRCh38)
3:101188684
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101469830:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.101469840_101469852del, NC_000003.12:g.101469841_101469852del, NC_000003.12:g.101469842_101469852del, NC_000003.12:g.101469843_101469852del, NC_000003.12:g.101469844_101469852del, NC_000003.12:g.101469846_101469852del, NC_000003.12:g.101469848_101469852del, NC_000003.12:g.101469849_101469852del, NC_000003.12:g.101469851_101469852del, NC_000003.12:g.101469852del, NC_000003.12:g.101469852dup, NC_000003.12:g.101469851_101469852dup, NC_000003.12:g.101469850_101469852dup, NC_000003.12:g.101469849_101469852dup, NC_000003.12:g.101469848_101469852dup, NC_000003.12:g.101469846_101469852dup, NC_000003.12:g.101469845_101469852dup, NC_000003.12:g.101469843_101469852dup, NC_000003.11:g.101188684_101188696del, NC_000003.11:g.101188685_101188696del, NC_000003.11:g.101188686_101188696del, NC_000003.11:g.101188687_101188696del, NC_000003.11:g.101188688_101188696del, NC_000003.11:g.101188690_101188696del, NC_000003.11:g.101188692_101188696del, NC_000003.11:g.101188693_101188696del, NC_000003.11:g.101188695_101188696del, NC_000003.11:g.101188696del, NC_000003.11:g.101188696dup, NC_000003.11:g.101188695_101188696dup, NC_000003.11:g.101188694_101188696dup, NC_000003.11:g.101188693_101188696dup, NC_000003.11:g.101188692_101188696dup, NC_000003.11:g.101188690_101188696dup, NC_000003.11:g.101188689_101188696dup, NC_000003.11:g.101188687_101188696dup
2.
rs1491556497 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:101385152
(GRCh38)
3:101103996
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101385151:AT:
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
3.
rs1491537311 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:101463363
(GRCh38)
3:101182208
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101463363::T
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00093/69
(GnomAD)
T=0.00115/2
(Korea1K)
T=0.01561/261
(TOMMO)
- HGVS:
4.
rs1491535070 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:101508047
(GRCh38)
3:101226891
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101508046:CA:
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00135/16
(
ALFA)
-=0.00214/60
(TOMMO)
- HGVS:
7.
rs1491486956 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 3:101506019
(GRCh38)
3:101224863
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101506018:AA:
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000184/3
(
ALFA)
-=0.00021/25
(GnomAD)
-=0.000212/4
(TOMMO)
-=0.000468/3
(1000Genomes)
-=0.001098/2
(Korea1K)
- HGVS:
8.
rs1491469005 has merged into rs71132568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:101345001
(GRCh38)
3:101063845
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101344991:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.101345001_101345017del, NC_000003.12:g.101345002_101345017del, NC_000003.12:g.101345003_101345017del, NC_000003.12:g.101345004_101345017del, NC_000003.12:g.101345005_101345017del, NC_000003.12:g.101345006_101345017del, NC_000003.12:g.101345007_101345017del, NC_000003.12:g.101345008_101345017del, NC_000003.12:g.101345009_101345017del, NC_000003.12:g.101345010_101345017del, NC_000003.12:g.101345011_101345017del, NC_000003.12:g.101345012_101345017del, NC_000003.12:g.101345013_101345017del, NC_000003.12:g.101345014_101345017del, NC_000003.12:g.101345015_101345017del, NC_000003.12:g.101345016_101345017del, NC_000003.12:g.101345017del, NC_000003.12:g.101345017dup, NC_000003.12:g.101345016_101345017dup, NC_000003.12:g.101345015_101345017dup, NC_000003.12:g.101345014_101345017dup, NC_000003.12:g.101345010_101345017dup, NC_000003.12:g.101345009_101345017dup, NC_000003.12:g.101345008_101345017dup, NC_000003.12:g.101345007_101345017dup, NC_000003.12:g.101345006_101345017dup, NC_000003.12:g.101345005_101345017dup, NC_000003.12:g.101345004_101345017dup, NC_000003.12:g.101345003_101345017dup, NC_000003.12:g.101345002_101345017dup, NC_000003.12:g.101345001_101345017dup, NC_000003.12:g.101344999_101345017dup, NC_000003.12:g.101344998_101345017dup, NC_000003.12:g.101344996_101345017dup, NC_000003.12:g.101344993_101345017dup, NC_000003.11:g.101063845_101063861del, NC_000003.11:g.101063846_101063861del, NC_000003.11:g.101063847_101063861del, NC_000003.11:g.101063848_101063861del, NC_000003.11:g.101063849_101063861del, NC_000003.11:g.101063850_101063861del, NC_000003.11:g.101063851_101063861del, NC_000003.11:g.101063852_101063861del, NC_000003.11:g.101063853_101063861del, NC_000003.11:g.101063854_101063861del, NC_000003.11:g.101063855_101063861del, NC_000003.11:g.101063856_101063861del, NC_000003.11:g.101063857_101063861del, NC_000003.11:g.101063858_101063861del, NC_000003.11:g.101063859_101063861del, NC_000003.11:g.101063860_101063861del, NC_000003.11:g.101063861del, NC_000003.11:g.101063861dup, NC_000003.11:g.101063860_101063861dup, NC_000003.11:g.101063859_101063861dup, NC_000003.11:g.101063858_101063861dup, NC_000003.11:g.101063854_101063861dup, NC_000003.11:g.101063853_101063861dup, NC_000003.11:g.101063852_101063861dup, NC_000003.11:g.101063851_101063861dup, NC_000003.11:g.101063850_101063861dup, NC_000003.11:g.101063849_101063861dup, NC_000003.11:g.101063848_101063861dup, NC_000003.11:g.101063847_101063861dup, NC_000003.11:g.101063846_101063861dup, NC_000003.11:g.101063845_101063861dup, NC_000003.11:g.101063843_101063861dup, NC_000003.11:g.101063842_101063861dup, NC_000003.11:g.101063840_101063861dup, NC_000003.11:g.101063837_101063861dup
9.
rs1491434804 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:101394516
(GRCh38)
3:101113360
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101394515:AT:
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
10.
rs1491417466 has merged into rs1010380283 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTTTTTAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:101365644
(GRCh38)
3:101084488
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:101365634:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTTAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
NC_000003.12:g.101365644_101365657del, NC_000003.12:g.101365645_101365657del, NC_000003.12:g.101365646_101365657del, NC_000003.12:g.101365647_101365657del, NC_000003.12:g.101365648_101365657del, NC_000003.12:g.101365649_101365657del, NC_000003.12:g.101365650_101365657del, NC_000003.12:g.101365651_101365657del, NC_000003.12:g.101365652_101365657del, NC_000003.12:g.101365653_101365657del, NC_000003.12:g.101365655_101365657del, NC_000003.12:g.101365656_101365657del, NC_000003.12:g.101365657del, NC_000003.12:g.101365657dup, NC_000003.12:g.101365656_101365657dup, NC_000003.12:g.101365655_101365657dup, NC_000003.12:g.101365654_101365657dup, NC_000003.12:g.101365653_101365657dup, NC_000003.12:g.101365652_101365657dup, NC_000003.12:g.101365651_101365657dup, NC_000003.12:g.101365650_101365657dup, NC_000003.12:g.101365637_101365657dup, NC_000003.12:g.101365636_101365657dup, NC_000003.12:g.101365635_101365657A[27]T[7]A[25], NC_000003.11:g.101084488_101084501del, NC_000003.11:g.101084489_101084501del, NC_000003.11:g.101084490_101084501del, NC_000003.11:g.101084491_101084501del, NC_000003.11:g.101084492_101084501del, NC_000003.11:g.101084493_101084501del, NC_000003.11:g.101084494_101084501del, NC_000003.11:g.101084495_101084501del, NC_000003.11:g.101084496_101084501del, NC_000003.11:g.101084497_101084501del, NC_000003.11:g.101084499_101084501del, NC_000003.11:g.101084500_101084501del, NC_000003.11:g.101084501del, NC_000003.11:g.101084501dup, NC_000003.11:g.101084500_101084501dup, NC_000003.11:g.101084499_101084501dup, NC_000003.11:g.101084498_101084501dup, NC_000003.11:g.101084497_101084501dup, NC_000003.11:g.101084496_101084501dup, NC_000003.11:g.101084495_101084501dup, NC_000003.11:g.101084494_101084501dup, NC_000003.11:g.101084481_101084501dup, NC_000003.11:g.101084480_101084501dup, NC_000003.11:g.101084479_101084501A[27]T[7]A[25]
11.
rs1491414108 has merged into rs61021808 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:101506035
(GRCh38)
3:101224879
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:101506020:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.101506035_101506038del, NC_000003.12:g.101506036_101506038del, NC_000003.12:g.101506037_101506038del, NC_000003.12:g.101506038del, NC_000003.12:g.101506038dup, NC_000003.12:g.101506037_101506038dup, NC_000003.12:g.101506036_101506038dup, NC_000003.12:g.101506035_101506038dup, NC_000003.12:g.101506034_101506038dup, NC_000003.12:g.101506033_101506038dup, NC_000003.12:g.101506032_101506038dup, NC_000003.12:g.101506031_101506038dup, NC_000003.11:g.101224879_101224882del, NC_000003.11:g.101224880_101224882del, NC_000003.11:g.101224881_101224882del, NC_000003.11:g.101224882del, NC_000003.11:g.101224882dup, NC_000003.11:g.101224881_101224882dup, NC_000003.11:g.101224880_101224882dup, NC_000003.11:g.101224879_101224882dup, NC_000003.11:g.101224878_101224882dup, NC_000003.11:g.101224877_101224882dup, NC_000003.11:g.101224876_101224882dup, NC_000003.11:g.101224875_101224882dup
12.
rs1491404389 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:101335513
(GRCh38)
3:101054357
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101335512:AT:
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.004384/52
(
ALFA)
-=0.000212/4
(TOMMO)
-=0.001667/1
(NorthernSweden)
-=0.0041/574
(GnomAD)
-=0.004337/1148
(TOPMED)
-=0.007388/37
(1000Genomes)
- HGVS:
13.
rs1491389563 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:101415766
(GRCh38)
3:101134610
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101415762:ACACA:ACA
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0.000071/1
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS:
14.
rs1491384799 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CAA,CCCCCCCCCCCCCCCCCA,CG
[Show Flanks]
- Chromosome:
- 3:101380446
(GRCh38)
3:101099291
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101380446::CAA,NC_000003.12:101380446::CCCCCCCCCCCCCCCCCA,NC_000003.12:101380446::CG
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CG=0./0
(
ALFA)
CCCCCCCCCCCCCCCCCA=0.00004/1
(TOMMO)
- HGVS:
15.
rs1491378441 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ACACA,ACACACACA
[Show Flanks]
- Chromosome:
- 3:101323949
(GRCh38)
3:101042794
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101323949::A,NC_000003.12:101323949::ACACA,NC_000003.12:101323949::ACACACACA
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00211/35
(TOMMO)
A=0.00273/5
(Korea1K)
- HGVS:
16.
rs1491378097 has merged into rs371641769 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:101502935
(GRCh38)
3:101221779
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101502921:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:101502921:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:101502921:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:101502921:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:101502921:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:101502921:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1734/103
(NorthernSweden)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000003.12:g.101502935_101502937del, NC_000003.12:g.101502936_101502937del, NC_000003.12:g.101502937del, NC_000003.12:g.101502937dup, NC_000003.12:g.101502936_101502937dup, NC_000003.12:g.101502930_101502937dup, NC_000003.11:g.101221779_101221781del, NC_000003.11:g.101221780_101221781del, NC_000003.11:g.101221781del, NC_000003.11:g.101221781dup, NC_000003.11:g.101221780_101221781dup, NC_000003.11:g.101221774_101221781dup
17.
rs1491319992 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:101502922
(GRCh38)
3:101221767
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101502922::T
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00006/4
(GnomAD)
- HGVS:
19.
rs1491313603 has merged into rs1553744607 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAA,AAAA
[Show Flanks]
- Chromosome:
- 3:101463364
(GRCh38)
3:101182208
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101463362:AAA:A,NC_000003.12:101463362:AAA:AAAA,NC_000003.12:101463362:AAA:AAAAA
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00012/2
(
ALFA)
-=0.00231/4
(Korea1K)
-=0.00318/53
(TOMMO)
-=0.01073/743
(GnomAD)
- HGVS:
20.
rs1491292612 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCCCCC
[Show Flanks]
- Chromosome:
- 3:101380436
(GRCh38)
3:101099281
(GRCh37)
- Canonical SPDI:
- NC_000003.12:101380436:CCCCC:CCCCCGCCCCC
- Gene:
- SENP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCCCGCCCCC=0.00051/6
(
ALFA)
- HGVS: