Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408065dup , CM000665.2:g.190408065dup | GRCh38 |
| NC_000003.11:g.190125854dup , CM000665.1:g.190125854dup | GRCh37 |
| NC_000003.10:g.191608548dup | NCBI36 |
| NG_008149.1:g.25014dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.383-249dup MANE Select | ENSP00000264734.3:n.383-249dup | |
| ENST00000456423.2:c.115-1838dup | ENSP00000414136.2:n.115-1838dup | |
| ENST00000264734.2:c.593-249dup | ENSP00000264734.2:n.593-249dup | |
| ENST00000456423.1:c.325-1838dup | ENSP00000414136.1:n.325-1838dup | |
| NM_006580.3:c.593-249dup | NP_006571.1:n.593-249dup | |
| NM_001378492.1:c.383-249dup | NP_001365421.1:n.383-249dup | |
| NM_001378493.1:c.383-249dup | NP_001365422.1:n.383-249dup | |
| NM_006580.4:c.383-249dup MANE Select | NP_006571.2:n.383-249dup |