Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013546_25013572dup , CM000685.2:g.25013546_25013572dup | GRCh38 |
| NC_000023.10:g.25031663_25031689dup , CM000685.1:g.25031663_25031689dup | GRCh37 |
| NC_000023.9:g.24941584_24941610dup | NCBI36 |
| NG_008281.1:g.7380_7406dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.426_452dup MANE Select | ENSP00000368332.4:p.Ala151_Ala152insGlyAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000379044.4:c.426_452dup | ENSP00000368332.4:p.Ala151_Ala152insGlyAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_139058.2:c.426_452dup | NP_620689.1:p.Ala151_Ala152insGlyAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_139058.3:c.426_452dup MANE Select | NP_620689.1:p.Ala151_Ala152insGlyAlaAlaAlaAlaAlaAlaAlaAla |