Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571471del , CM000663.2:g.154571471del | GRCh38 |
| NC_000001.10:g.154543947del , CM000663.1:g.154543947del | GRCh37 |
| NC_000001.9:g.152810571del | NCBI36 |
| NG_008027.1:g.8691del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.648del MANE Select | ENSP00000357461.3:p.Asp217ThrfsTer? | |
| ENST00000636034.1:c.648del | ENSP00000489703.1:p.Asp217ThrfsTer? | |
| ENST00000637900.1:c.654del | ENSP00000490474.1:p.Asp219ThrfsTer? | |
| ENST00000368476.3:c.648del | ENSP00000357461.3:p.Asp217ThrfsTer? | |
| NM_000748.2:c.648del | NP_000739.1:p.Asp217ThrfsTer? | |
| XM_017000180.2:c.138del | XP_016855669.1:p.Asp47ThrfsTer? | |
| XR_001736952.2:n.900del | ||
| NM_000748.3:c.648del MANE Select | NP_000739.1:p.Asp217ThrfsTer? |