Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013677_25013691dup , CM000685.2:g.25013677_25013691dup | GRCh38 |
| NC_000023.10:g.25031794_25031808dup , CM000685.1:g.25031794_25031808dup | GRCh37 |
| NC_000023.9:g.24941715_24941729dup | NCBI36 |
| NG_008281.1:g.7275_7289dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.321_335dup MANE Select | ENSP00000368332.4:p.Ala112_Ala113insAlaAlaAlaAlaAla | |
| ENST00000379044.4:c.321_335dup | ENSP00000368332.4:p.Ala112_Ala113insAlaAlaAlaAlaAla | |
| NM_139058.2:c.321_335dup | NP_620689.1:p.Ala112_Ala113insAlaAlaAlaAlaAla | |
| NM_139058.3:c.321_335dup MANE Select | NP_620689.1:p.Ala112_Ala113insAlaAlaAlaAlaAla |