Linked Data
ClinVar Variation Id:
495800
ClinVar RCV Id:
RCV000590448
dbSNP Id:
rs574854691
ExAC:
7:95039292 AAAC / A
gnomAD v2:
7-95039292-AAAC-A
gnomAD v3:
7-95409980-AAAC-A
gnomAD v4:
7-95409980-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95409985_95409987del , CM000669.2:g.95409985_95409987del | GRCh38 |
| NC_000007.13:g.95039297_95039299del , CM000669.1:g.95039297_95039299del | GRCh37 |
| NC_000007.12:g.94877233_94877235del | NCBI36 |
| NG_008725.1:g.30090_30092del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222572.8:c.613_615del MANE Select | ENSP00000222572.3:p.Val205del | |
| ENST00000222572.7:c.613_615del | ENSP00000222572.3:p.Val205del | |
| ENST00000433091.6:c.577_579del | ENSP00000404622.2:p.Val193del | |
| ENST00000446142.5:c.*478_*480del | ENSP00000405211.1:n.*478_*480del | |
| ENST00000455123.5:c.613_615del | ENSP00000414515.1:p.Val205del | |
| ENST00000459842.1:n.151_153del | ||
| ENST00000483292.5:c.170_172del | ||
| ENST00000633192.1:c.676_678del | ENSP00000488378.1:p.Val226del | |
| ENST00000633531.1:c.613_615del | ENSP00000488838.1:p.Val205del | |
| NM_000305.2:c.613_615del | NP_000296.2:p.Val205del | |
| NM_001018161.1:c.577_579del | NP_001018171.1:p.Val193del | |
| XM_005250453.1:c.409_411del | XP_005250510.1:p.Val137del | |
| XM_005250454.1:c.403_405del | XP_005250511.1:p.Val135del | |
| XM_011516333.1:c.355_357del | XP_011514635.1:p.Val119del | |
| XM_017012357.2:c.403_405del | XP_016867846.1:p.Val135del | |
| XM_017012358.2:c.355_357del | XP_016867847.1:p.Val119del | |
| NM_000305.3:c.613_615del MANE Select | NP_000296.2:p.Val205del | |
| NM_001018161.2:c.577_579del | NP_001018171.1:p.Val193del |