Linked Data
dbSNP Id:
rs761907241
ExAC:
17:56351062 ACC / A
gnomAD v2:
17-56351062-ACC-A
gnomAD v3:
17-58273701-ACC-A
gnomAD v4:
17-58273701-ACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273703_58273704del , CM000679.2:g.58273703_58273704del | GRCh38 |
| NC_000017.10:g.56351064_56351065del , CM000679.1:g.56351064_56351065del | GRCh37 |
| NC_000017.9:g.53706063_53706064del | NCBI36 |
| NG_009629.1:g.12233_12234del , LRG_84:g.12233_12234del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.699-34_699-33del | ||
| ENST00000699291.1:c.491-34_491-33del | ENSP00000514272.1:n.491-34_491-33del | |
| ENST00000699292.1:n.372_373del | ||
| ENST00000225275.4:c.1366-34_1366-33del MANE Select | ENSP00000225275.3:n.1366-34_1366-33del | |
| ENST00000225275.3:c.1366-34_1366-33del | ENSP00000225275.3:n.1366-34_1366-33del | |
| NM_000250.1:c.1366-34_1366-33del , LRG_84t1:c.1366-34_1366-33del | NP_000241.1:n.1366-34_1366-33del | |
| XM_011524821.1:c.1552-34_1552-33del | XP_011523123.1:n.1552-34_1552-33del | |
| XM_011524822.1:c.1081-34_1081-33del | XP_011523124.1:n.1081-34_1081-33del | |
| XM_011524823.1:c.1391-34_1391-33del | XP_011523125.1:n.1391-34_1391-33del | |
| NM_000250.2:c.1366-34_1366-33del MANE Select | NP_000241.1:n.1366-34_1366-33del |