Linked Data
dbSNP Id:
rs771626697
ExAC:
2:88882946 AC / A
gnomAD v2:
2-88882946-AC-A
gnomAD v4:
2-88583428-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88583430del , CM000664.2:g.88583430del | GRCh38 |
| NC_000002.11:g.88882948del , CM000664.1:g.88882948del | GRCh37 |
| NC_000002.10:g.88664063del | NCBI36 |
| NG_016424.1:g.49148del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682276.1:n.1208+1del | ||
| ENST00000682892.1:c.1310+1del | ||
| ENST00000682952.1:n.1402+1del | ||
| ENST00000684455.1:c.976+1del | ||
| ENST00000684642.1:c.1160+1del | ||
| ENST00000303236.9:c.1763+1del | ||
| ENST00000652099.1:c.1957+1del | ||
| ENST00000652736.1:n.1639+1del | ||
| ENST00000303236.7:c.1763+1del | ||
| ENST00000415570.1:c.1400+1del | ||
| ENST00000419748.5:c.1310+1del | ||
| NM_001313915.1:c.1310+1del | ||
| NM_004836.5:c.1763+1del | ||
| NM_004836.6:c.1763+1del | ||
| XM_005264649.3:c.1079+1del | ||
| XR_939749.1:n.1972+1del | ||
| XM_017005376.2:c.1079+1del | ||
| NM_004836.7:c.1763+1del | ||
| NM_001313915.2:c.1310+1del |