Linked Data
dbSNP Id:
rs67157575
gnomAD v2:
6-31236598-CG-C
gnomAD v3:
6-31268821-CG-C
gnomAD v4:
6-31268821-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268822del , CM000668.2:g.31268822del | GRCh38 |
| NC_000006.11:g.31236599del , CM000668.1:g.31236599del | GRCh37 |
| NC_000006.10:g.31344578del | NCBI36 |
| NG_029422.2:g.8310del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*347del MANE Select | ENSP00000365402.5:n.*347del | |
| ENST00000376228.9:c.*347del | ENSP00000365402.5:n.*347del | |
| ENST00000376237.8:c.*1035del | ENSP00000365412.4:n.*1035del | |
| ENST00000383329.7:c.*347del | ENSP00000372819.3:n.*347del | |
| ENST00000466892.5:n.681del | ||
| ENST00000470363.5:n.1206del | ||
| ENST00000487245.5:n.1807del | ||
| NM_002117.5:c.*347del | NP_002108.4:n.*347del | |
| NM_002117.6:c.*347del MANE Select | NP_002108.4:n.*347del |