Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54471429del , CM000685.2:g.54471429del | GRCh38 |
| NC_000023.10:g.54497862del , CM000685.1:g.54497862del | GRCh37 |
| NC_000023.9:g.54514587del | NCBI36 |
| NG_008054.1:g.29739del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004463.3:c.367del MANE Select | NP_004454.2:p.Leu123Ter |
| ENST00000375135.4:c.367del MANE Select | ENSP00000364277.3:p.Leu123Ter |
| NM_004463.2:c.367del | NP_004454.2:p.Leu123Ter |
| ENST00000375135.3:c.367del | ENSP00000364277.3:p.Leu123Ter |