Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133366005dup , CM000672.2:g.133366005dup | GRCh38 |
| NC_000010.10:g.135179509dup , CM000672.1:g.135179509dup | GRCh37 |
| NC_000010.9:g.135029499dup | NCBI36 |
| NG_042077.1:g.12400dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.710dup MANE Select | ENSP00000357535.3:p.Ala238SerfsTer12 | |
| ENST00000368547.3:c.710dup | ENSP00000357535.3:p.Ala238SerfsTer12 | |
| NM_004092.3:c.710dup | NP_004083.3:p.Ala238SerfsTer12 | |
| XR_002956965.1:n.1566dup | ||
| NM_004092.4:c.710dup MANE Select | NP_004083.3:p.Ala238SerfsTer12 |