Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028066_52028067del , CM000666.2:g.52028066_52028067del | GRCh38 |
| NC_000004.11:g.52894232_52894233del , CM000666.1:g.52894232_52894233del | GRCh37 |
| NC_000004.10:g.52588989_52588990del | NCBI36 |
| NG_008891.1:g.15255_15256del , LRG_204:g.15255_15256del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.656_657del MANE Select | NP_000223.1:p.Lys219SerfsTer2 |
| ENST00000381431.10:c.656_657del MANE Select | ENSP00000370839.6:p.Lys219SerfsTer2 |
| NM_000232.4:c.656_657del , LRG_204t1:c.656_657del | NP_000223.1:p.Lys219SerfsTer2 |
| ENST00000381431.9:c.656_657del | ENSP00000370839.5:p.Lys219SerfsTer2 |
| XM_006714049.2:c.359_360del | XP_006714112.1:p.Lys120SerfsTer2 |
| XM_011534403.1:c.446_447del | XP_011532705.1:p.Lys149SerfsTer2 |
| XM_011534404.1:c.359_360del | XP_011532706.1:p.Lys120SerfsTer2 |