Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021364del , CM000663.2:g.94021364del | GRCh38 |
| NC_000001.10:g.94486920del , CM000663.1:g.94486920del | GRCh37 |
| NC_000001.9:g.94259508del | NCBI36 |
| NG_009073.1:g.104787del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4895del MANE Select | ENSP00000359245.3:p.Asn1632MetfsTer30 | |
| ENST00000370225.3:c.4895del | ENSP00000359245.3:p.Asn1632MetfsTer30 | |
| ENST00000460514.1:n.389del | ||
| ENST00000470771.1:n.5del | ||
| ENST00000536513.5:c.1271del | ENSP00000439707.2:p.Asn424MetfsTer30 | |
| NM_000350.2:c.4895del | NP_000341.2:p.Asn1632MetfsTer30 | |
| NM_000350.3:c.4895del MANE Select | NP_000341.2:p.Asn1632MetfsTer30 |