Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532605_129532613dup , CM000665.2:g.129532605_129532613dup | GRCh38 |
| NC_000003.11:g.129251448_129251456dup , CM000665.1:g.129251448_129251456dup | GRCh37 |
| NC_000003.10:g.130734138_130734146dup | NCBI36 |
| NG_009115.1:g.8967_8975dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.769_777dup MANE Select | ENSP00000296271.3:p.Ile259_Ala260insMetVa... | |
| ENST00000296271.3:c.769_777dup | ENSP00000296271.3:p.Ile259_Ala260insMetVa... | |
| NM_000539.3:c.769_777dup MANE Select | NP_000530.1:p.Ile259_Ala260insMetValIle |