Linked Data
dbSNP Id:
rs1369774019
gnomAD v2:
5-151208652-CAG-C
gnomAD v3:
5-151829091-CAG-C
gnomAD v4:
5-151829091-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151829092_151829093del , CM000667.2:g.151829092_151829093del | GRCh38 |
| NC_000005.9:g.151208653_151208654del , CM000667.1:g.151208653_151208654del | GRCh37 |
| NC_000005.8:g.151188846_151188847del | NCBI36 |
| NG_011764.1:g.100744_100745del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.913-26_913-25del MANE Select | ENSP00000274576.5:n.913-26_913-25del | |
| ENST00000274576.8:c.913-26_913-25del | ENSP00000274576.4:n.913-26_913-25del | |
| ENST00000455880.2:c.913-26_913-25del | ENSP00000411593.2:n.913-26_913-25del | |
| ENST00000462581.6:c.*671-26_*671-25del | ENSP00000430595.1:n.*671-26_*671-25del | |
| NM_000171.3:c.913-26_913-25del | NP_000162.2:n.913-26_913-25del | |
| NM_001146040.1:c.913-26_913-25del | NP_001139512.1:n.913-26_913-25del | |
| NM_001292000.1:c.664-26_664-25del | NP_001278929.1:n.664-26_664-25del | |
| NM_000171.4:c.913-26_913-25del MANE Select | NP_000162.2:n.913-26_913-25del | |
| NM_001146040.2:c.913-26_913-25del | NP_001139512.1:n.913-26_913-25del | |
| NM_001292000.2:c.664-26_664-25del | NP_001278929.1:n.664-26_664-25del |