Linked Data
dbSNP Id:
rs2040748681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256068_24256070del , CM000676.2:g.24256068_24256070del | GRCh38 |
| NC_000014.8:g.24725274_24725276del , CM000676.1:g.24725274_24725276del | GRCh37 |
| NC_000014.7:g.23795114_23795116del | NCBI36 |
| NG_007150.1:g.12101_12103del | |
| NG_007150.2:g.12101_12103del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.1414_1416del MANE Select | ENSP00000206765.6:p.Cys472del | |
| ENST00000206765.10:c.1414_1416del | ENSP00000206765.6:p.Cys472del | |
| ENST00000544573.5:c.88_90del | ENSP00000439446.1:p.Cys30del | |
| ENST00000559136.1:c.487_489del | ENSP00000453337.1:p.Cys163del | |
| NM_000359.2:c.1414_1416del | NP_000350.1:p.Cys472del | |
| NM_000359.3:c.1414_1416del MANE Select | NP_000350.1:p.Cys472del |