Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045309_114045357del , CM000672.2:g.114045309_114045357del | GRCh38 |
| NC_000010.10:g.115805068_115805116del , CM000672.1:g.115805068_115805116del | GRCh37 |
| NC_000010.9:g.115795058_115795106del | NCBI36 |
| NG_012187.1:g.6263_6311del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1177_1225del MANE Select | ENSP00000358301.2:p.Cys393ArgfsTer? | |
| ENST00000369295.3:c.1177_1225del | ENSP00000358301.2:p.Cys393ArgfsTer? | |
| NM_000684.2:c.1177_1225del | NP_000675.1:p.Cys393ArgfsTer? | |
| NM_000684.3:c.1177_1225del MANE Select | NP_000675.1:p.Cys393ArgfsTer? |