Linked Data
dbSNP Id:
rs11394720
gnomAD v2:
13-47419778-CAAAAAA-C
gnomAD v3:
13-46845643-CAAAAAA-C
gnomAD v4:
13-46845643-CAAAAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46845655_46845660del , CM000675.2:g.46845655_46845660del | GRCh38 |
| NC_000013.10:g.47419790_47419795del , CM000675.1:g.47419790_47419795del | GRCh37 |
| NC_000013.9:g.46317791_46317796del | NCBI36 |
| NG_013011.1:g.56386_56391del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.614-10010_614-10005del MANE Select | ENSP00000437737.1:n.614-10010_614-10005del | |
| ENST00000543956.5:c.125-10010_125-10005del | ENSP00000441861.2:n.125-10010_125-10005del | |
| ENST00000378688.8:c.614-10010_614-10005del | ENSP00000367959.3:n.614-10010_614-10005del | |
| ENST00000542664.3:c.614-10010_614-10005del | ENSP00000437737.1:n.614-10010_614-10005del | |
| ENST00000543956.4:c.362-10010_362-10005del | ENSP00000441861.1:n.362-10010_362-10005del | |
| NM_000621.4:c.614-10010_614-10005del | NP_000612.1:n.614-10010_614-10005del | |
| NM_001165947.2:c.362-10010_362-10005del | NP_001159419.1:n.362-10010_362-10005del | |
| NM_000621.5:c.614-10010_614-10005del MANE Select | NP_000612.1:n.614-10010_614-10005del | |
| NM_001165947.5:c.125-10010_125-10005del | NP_001159419.2:n.125-10010_125-10005del | |
| NM_001378924.1:c.614-10010_614-10005del | NP_001365853.1:n.614-10010_614-10005del |