Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38148303del , CM000670.2:g.38148303del | GRCh38 |
| NC_000008.10:g.38005821del , CM000670.1:g.38005821del | GRCh37 |
| NC_000008.9:g.38124978del | NCBI36 |
| NG_011827.1:g.7780del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.203del MANE Select | NP_000340.2:p.Tyr68SerfsTer? |
| ENST00000276449.9:c.203del MANE Select | ENSP00000276449.3:p.Tyr68SerfsTer? |
| NM_000349.2:c.203del | NP_000340.2:p.Tyr68SerfsTer? |
| ENST00000276449.8:c.203del | ENSP00000276449.3:p.Tyr68SerfsTer? |
| ENST00000520114.1:n.690del | |
| ENST00000521236.1:c.-44del | ENSP00000430030.1:n.-44del |
| ENST00000522050.1:c.139del | |
| XM_006716392.1:c.203del | XP_006716455.1:p.Tyr68SerfsTer? |