Linked Data
dbSNP Id:
rs1554181731
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268909del , CM000668.2:g.31268909del | GRCh38 |
| NC_000006.11:g.31236686del , CM000668.1:g.31236686del | GRCh37 |
| NC_000006.10:g.31344665del | NCBI36 |
| NG_029422.2:g.8223del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*260del MANE Select | ENSP00000365402.5:n.*260del | |
| ENST00000376228.9:c.*260del | ENSP00000365402.5:n.*260del | |
| ENST00000376237.8:c.*948del | ENSP00000365412.4:n.*948del | |
| ENST00000383329.7:c.*260del | ENSP00000372819.3:n.*260del | |
| ENST00000466892.5:n.594del | ||
| ENST00000470363.5:n.1119del | ||
| ENST00000487245.5:n.1720del | ||
| NM_002117.5:c.*260del | NP_002108.4:n.*260del | |
| NM_002117.6:c.*260del MANE Select | NP_002108.4:n.*260del |