Linked Data
dbSNP Id:
rs281864473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177387del , CM000678.2:g.177387del | GRCh38 |
| NC_000016.9:g.227386del , CM000678.1:g.227386del | GRCh37 |
| NC_000016.8:g.167386del | NCBI36 |
| NG_000006.1:g.38250del | |
| NG_059186.1:g.5737del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.405del MANE Select | ENSP00000322421.5:p.Val136CysfsTer2 | |
| ENST00000397797.1:c.309del | ENSP00000380899.1:p.Val104CysfsTer2 | |
| ENST00000472694.1:n.541del | ||
| NM_000558.4:c.405del | NP_000549.1:p.Val136CysfsTer2 | |
| NM_000558.5:c.405del MANE Select | NP_000549.1:p.Val136CysfsTer2 |