Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3586548_3586564del , CM000681.2:g.3586548_3586564del | GRCh38 |
| NC_000019.9:g.3586546_3586562del , CM000681.1:g.3586546_3586562del | GRCh37 |
| NC_000019.8:g.3537546_3537562del | NCBI36 |
| NG_031943.1:g.5978_5994del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133261.3:c.279_295del MANE Select | NP_573568.1:p.Gln95LeufsTer17 |
| ENST00000644452.3:c.279_295del MANE Select | ENSP00000493901.2:p.Gln95LeufsTer17 |
| NM_133261.2:c.279_295del | NP_573568.1:p.Gln95LeufsTer17 |
| ENST00000322315.5:c.279_295del | ENSP00000319254.5:p.Gln95LeufsTer17 |
| ENST00000644946.1:c.279_295del | ENSP00000495068.1:p.Gln95LeufsTer17 |
| XM_005259492.2:c.279_295del | XP_005259549.1:p.Gln95LeufsTer17 |
| XM_005259492.3:c.279_295del | XP_005259549.1:p.Gln95LeufsTer17 |