Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136758312dup , CM000671.2:g.136758312dup | GRCh38 |
| NC_000009.11:g.139652764dup , CM000671.1:g.139652764dup | GRCh37 |
| NC_000009.10:g.138772585dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001345934.1:c.93+143dup | NP_001332863.1:n.93+143dup |
| NM_001345934.2:c.93+143dup | NP_001332863.1:n.93+143dup |
| ENST00000612714.1:c.93+143dup | ENSP00000482512.1:n.93+143dup |
| XM_017014272.2:c.93+143dup | XP_016869761.1:n.93+143dup |