Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119916298_119916301del , CM000663.2:g.119916298_119916301del | GRCh38 |
| NC_000001.10:g.120458921_120458924del , CM000663.1:g.120458921_120458924del | GRCh37 |
| NC_000001.9:g.120260444_120260447del | NCBI36 |
| NG_008163.1:g.158356_158359del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256646.7:c.6424_6427del MANE Select | ENSP00000256646.2:p.Ser2142ArgfsTer4 | |
| ENST00000256646.6:c.6424_6427del | ENSP00000256646.2:p.Ser2142ArgfsTer4 | |
| NM_024408.3:c.6424_6427del | NP_077719.2:p.Ser2142ArgfsTer4 | |
| XM_005270901.2:c.6307_6310del | XP_005270958.1:p.Ser2103ArgfsTer4 | |
| XM_011541519.1:c.6412_6415del | XP_011539821.1:p.Ser2138ArgfsTer4 | |
| XM_011541520.1:c.6307_6310del | XP_011539822.1:p.Ser2103ArgfsTer4 | |
| NM_024408.4:c.6424_6427del MANE Select | NP_077719.2:p.Ser2142ArgfsTer4 |