Linked Data
dbSNP Id:
rs771171412
ExAC:
17:76563101 GATC / G
gnomAD v2:
17-76563101-GATC-G
gnomAD v4:
17-78567019-GATC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78567022_78567024del , CM000679.2:g.78567022_78567024del | GRCh38 |
| NC_000017.10:g.76563104_76563106del , CM000679.1:g.76563104_76563106del | GRCh37 |
| NC_000017.9:g.74074699_74074701del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.1429_1431del MANE Select | ENSP00000374490.6:p.Asp477del | |
| ENST00000389840.6:c.1429_1431del | ENSP00000374490.6:p.Asp477del | |
| ENST00000585328.5:c.1429_1431del | ENSP00000465516.1:p.Asp477del | |
| ENST00000589793.1:n.641_643del | ||
| NM_173628.3:c.1429_1431del | NP_775899.3:p.Asp477del | |
| XM_011525416.1:c.1429_1431del | XP_011523718.1:p.Asp477del | |
| XM_011525417.1:c.1429_1431del | XP_011523719.1:p.Asp477del | |
| XR_934583.1:n.1590_1592del | ||
| XM_011525416.2:c.1429_1431del | XP_011523718.1:p.Asp477del | |
| XM_024451013.1:c.1429_1431del | XP_024306781.1:p.Asp477del | |
| XM_024451014.1:c.1429_1431del | XP_024306782.1:p.Asp477del | |
| XR_002958080.1:n.1592_1594del | ||
| XR_002958081.1:n.1596_1598del | ||
| NM_173628.4:c.1429_1431del MANE Select | NP_775899.3:p.Asp477del |