Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46877732_46877733dup , CM000685.2:g.46877732_46877733dup | GRCh38 |
| NC_000023.10:g.46737167_46737168dup , CM000685.1:g.46737167_46737168dup | GRCh37 |
| NC_000023.9:g.46622111_46622112dup | NCBI36 |
| NG_009107.1:g.45821_45822dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006915.3:c.969+142_969+143dup MANE Select | NP_008846.2:n.969+142_969+143dup |
| ENST00000218340.4:c.969+142_969+143dup MANE Select | ENSP00000218340.3:n.969+142_969+143dup |
| NM_006915.2:c.969+142_969+143dup | NP_008846.2:n.969+142_969+143dup |
| ENST00000218340.3:c.969+142_969+143dup | ENSP00000218340.3:n.969+142_969+143dup |