Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016124del , CM000681.2:g.49016124del | GRCh38 |
| NC_000019.9:g.49519381del , CM000681.1:g.49519381del | GRCh37 |
| NC_000019.8:g.54211193del | NCBI36 |
| NG_011464.1:g.5969del | |
| NG_033041.1:g.27226del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.372del MANE Select | ENSP00000497294.2:p.Asp125ThrfsTer4 | |
| ENST00000649284.1:n.463del | ||
| ENST00000221421.6:c.372del | ENSP00000221421.1:p.Asp125ThrfsTer4 | |
| ENST00000391869.4:c.366del | ENSP00000375742.4:p.Asp123ThrfsTer4 | |
| NM_000894.2:c.372del | NP_000885.1:p.Asp125ThrfsTer4 | |
| XM_011526975.1:c.420del | XP_011525277.1:p.Asp141ThrfsTer4 | |
| NM_000894.3:c.372del MANE Select | NP_000885.1:p.Asp125ThrfsTer4 |