Linked Data
ClinVar Variation Id:
325989
ClinVar RCV Id:
RCV000354255
dbSNP Id:
rs886053589
gnomAD v2:
17-8129126-AAT-A
gnomAD v3:
17-8225808-AAT-A
gnomAD v4:
17-8225808-AAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8225815_8225816del , CM000679.2:g.8225815_8225816del | GRCh38 |
| NC_000017.10:g.8129133_8129134del , CM000679.1:g.8129133_8129134del | GRCh37 |
| NC_000017.9:g.8069858_8069859del | NCBI36 |
| NG_032148.1:g.27286_27287del | |
| NG_032148.2:g.27286_27287del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651323.1:c.*2370_*2371del MANE Select | ENSP00000498499.1:n.*2370_*2371del | |
| ENST00000315684.12:c.*2370_*2371del | ENSP00000313759.8:n.*2370_*2371del | |
| NM_025099.5:c.*2370_*2371del | NP_079375.3:n.*2370_*2371del | |
| NR_046431.1:n.5913_5914del | ||
| XM_006721577.2:c.*2370_*2371del | XP_006721640.1:n.*2370_*2371del | |
| XM_006721578.2:c.*2370_*2371del | XP_006721641.1:n.*2370_*2371del | |
| XM_011524010.1:c.*2370_*2371del | XP_011522312.1:n.*2370_*2371del | |
| XM_011524011.1:c.*2370_*2371del | XP_011522313.1:n.*2370_*2371del | |
| XR_429823.2:n.5901_5902del | ||
| XR_429824.2:n.6002_6003del | ||
| NM_025099.6:c.*2370_*2371del MANE Select | NP_079375.3:n.*2370_*2371del | |
| XM_006721577.3:c.*2370_*2371del | XP_006721640.1:n.*2370_*2371del | |
| XM_006721578.3:c.*2370_*2371del | XP_006721641.1:n.*2370_*2371del | |
| XM_011524010.2:c.*2370_*2371del | XP_011522312.1:n.*2370_*2371del | |
| XM_011524011.2:c.*2370_*2371del | XP_011522313.1:n.*2370_*2371del | |
| XR_001752639.1:n.5875_5876del | ||
| XR_001752640.1:n.6023_6024del | ||
| XR_001752641.1:n.5958_5959del | ||
| XR_001752642.1:n.5808_5809del | ||
| XR_002958073.1:n.6314_6315del | ||
| XR_429823.3:n.5901_5902del | ||
| XR_429824.3:n.6002_6003del | ||
| NR_046431.2:n.5874_5875del |