Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013665_25013697dup , CM000685.2:g.25013665_25013697dup | GRCh38 |
| NC_000023.10:g.25031782_25031814dup , CM000685.1:g.25031782_25031814dup | GRCh37 |
| NC_000023.9:g.24941703_24941735dup | NCBI36 |
| NG_008281.1:g.7263_7295dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.309_341dup MANE Select | ENSP00000368332.4:p.Ala114_Ala115insAlaAl... | |
| ENST00000379044.4:c.309_341dup | ENSP00000368332.4:p.Ala114_Ala115insAlaAl... | |
| NM_139058.2:c.309_341dup | NP_620689.1:p.Ala114_Ala115insAlaAlaAlaAl... | |
| NM_139058.3:c.309_341dup MANE Select | NP_620689.1:p.Ala114_Ala115insAlaAlaAlaAl... |