Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20618476del , CM000663.2:g.20618476del | GRCh38 |
| NC_000001.10:g.20944969del , CM000663.1:g.20944969del | GRCh37 |
| NC_000001.9:g.20817556del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375071.4:c.349del MANE Select | ENSP00000364212.3:p.Met117Ter | |
| ENST00000375071.3:c.349del | ENSP00000364212.3:p.Met117Ter | |
| ENST00000461985.1:n.335del | ||
| NM_001785.2:c.349del | NP_001776.1:p.Met117Ter | |
| NM_001785.3:c.349del MANE Select | NP_001776.1:p.Met117Ter |