Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535275del , CM000665.2:g.81535275del | GRCh38 |
| NC_000003.11:g.81584426del , CM000665.1:g.81584426del | GRCh37 |
| NC_000003.10:g.81667116del | NCBI36 |
| NG_011810.1:g.231526del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1854del MANE Select | ENSP00000410833.2:p.Ala619GlnfsTer? | |
| ENST00000429644.6:c.1854del | ENSP00000410833.2:p.Ala619GlnfsTer? | |
| ENST00000484687.1:n.255del | ||
| ENST00000489715.1:c.1731del | ENSP00000419638.1:p.Ala578GlnfsTer? | |
| NM_000158.3:c.1854del | NP_000149.3:p.Ala619GlnfsTer? | |
| NM_000158.4:c.1854del MANE Select | NP_000149.4:p.Ala619GlnfsTer? |