Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454468del , CM000679.2:g.7454468del | GRCh38 |
| NC_000017.10:g.7357787del , CM000679.1:g.7357787del | GRCh37 |
| NC_000017.9:g.7298511del | NCBI36 |
| NG_008026.1:g.14382del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.992del MANE Select | ENSP00000304290.2:p.Asn331ThrfsTer30 | |
| ENST00000306071.6:c.992del | ENSP00000304290.2:p.Asn331ThrfsTer30 | |
| ENST00000536404.6:c.776del | ENSP00000439209.2:p.Asn259ThrfsTer30 | |
| ENST00000570557.5:c.655del | ||
| ENST00000573209.1:n.1936del | ||
| ENST00000576360.1:c.629del | ENSP00000459092.1:p.Asn210ThrfsTer30 | |
| NM_000747.2:c.992del | NP_000738.2:p.Asn331ThrfsTer30 | |
| NM_000747.3:c.992del MANE Select | NP_000738.2:p.Asn331ThrfsTer30 |