Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084515_108084516dup , CM000685.2:g.108084515_108084516dup | GRCh38 |
| NC_000023.10:g.107327745_107327746dup , CM000685.1:g.107327745_107327746dup | GRCh37 |
| NC_000023.9:g.107214401_107214402dup | NCBI36 |
| NG_012521.1:g.12109_12110dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*464_*465dup MANE Select | ENSP00000217958.3:n.*464_*465dup | |
| ENST00000217958.7:c.*464_*465dup | ENSP00000217958.3:n.*464_*465dup | |
| NM_002814.3:c.*464_*465dup | NP_002805.1:n.*464_*465dup | |
| NM_170750.2:c.*610_*611dup | NP_736606.1:n.*610_*611dup | |
| NM_002814.4:c.*464_*465dup MANE Select | NP_002805.1:n.*464_*465dup | |
| NM_170750.3:c.*610_*611dup | NP_736606.1:n.*610_*611dup |