Linked Data
dbSNP Id:
rs767613484
gnomAD v2:
9-119333343-GA-G
gnomAD v3:
9-116571064-GA-G
gnomAD v4:
9-116571064-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116571065del , CM000671.2:g.116571065del | GRCh38 |
| NC_000009.11:g.119333344del , CM000671.1:g.119333344del | GRCh37 |
| NC_000009.10:g.118373165del | NCBI36 |
| NG_021409.1:g.848974del | |
| NG_021409.2:g.848993del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313400.9:c.3355+47259del MANE Select | ENSP00000314038.4:n.3355+47259del | |
| ENST00000361477.8:c.3202+47259del | ENSP00000355116.5:n.3202+47259del | |
| ENST00000288520.9:c.658+47259del | ENSP00000288520.5:n.658+47259del | |
| ENST00000313400.8:c.3355+47259del | ENSP00000314038.4:n.3355+47259del | |
| ENST00000341734.8:c.511+47259del | ENSP00000339925.4:n.511+47259del | |
| ENST00000361209.6:c.3202+47259del | ENSP00000354504.2:n.3202+47259del | |
| ENST00000361477.7:c.511+47259del | ENSP00000355116.4:n.511+47259del | |
| ENST00000373986.7:c.2524+47259del | ENSP00000363098.3:n.2524+47259del | |
| NM_001184734.1:c.511+47259del | NP_001171663.1:n.511+47259del | |
| NM_014010.4:c.3202+47259del | NP_054729.3:n.3202+47259del | |
| NM_198186.3:c.658+47259del | NP_937829.3:n.658+47259del | |
| NM_198187.3:c.511+47259del | NP_937830.3:n.511+47259del | |
| NM_198188.2:c.511+47259del | NP_937831.1:n.511+47259del | |
| NM_001365068.1:c.3355+47259del MANE Select | NP_001351997.1:n.3355+47259del | |
| NM_001365069.1:c.3343+47259del | NP_001351998.1:n.3343+47259del | |
| NM_014010.5:c.3202+47259del | NP_054729.3:n.3202+47259del |