Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787543_18787544del , CM000681.2:g.18787543_18787544del | GRCh38 |
| NC_000019.9:g.18898352_18898353del , CM000681.1:g.18898352_18898353del | GRCh37 |
| NC_000019.8:g.18759352_18759353del | NCBI36 |
| NG_007070.1:g.8765_8766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1085_1086del MANE Select | ENSP00000222271.2:p.Thr362ArgfsTer27 | |
| ENST00000222271.6:c.1085_1086del | ENSP00000222271.2:p.Thr362ArgfsTer27 | |
| ENST00000425807.1:c.926_927del | ENSP00000403792.1:p.Thr309ArgfsTer27 | |
| ENST00000542601.6:c.986_987del | ENSP00000439156.2:p.Thr329ArgfsTer27 | |
| NM_000095.2:c.1085_1086del | NP_000086.2:p.Thr362ArgfsTer27 | |
| NM_000095.3:c.1085_1086del MANE Select | NP_000086.2:p.Thr362ArgfsTer27 |