Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19966981_19966982dup , CM000670.2:g.19966981_19966982dup | GRCh38 |
| NC_000008.10:g.19824492_19824493dup , CM000670.1:g.19824492_19824493dup | GRCh37 |
| NC_000008.9:g.19868772_19868773dup | NCBI36 |
| NG_008855.1:g.32911_32912dup | |
| NG_008855.2:g.70265_70266dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1671_*1672dup MANE Select | ENSP00000497642.1:n.*1671_*1672dup | |
| ENST00000650478.1:c.2039_2040dup | ENSP00000497560.1:n.2039_2040dup | |
| ENST00000311322.8:c.*1671_*1672dup | ENSP00000309757.6:n.*1671_*1672dup | |
| NM_000237.2:c.*1671_*1672dup | NP_000228.1:n.*1671_*1672dup | |
| NM_000237.3:c.*1671_*1672dup MANE Select | NP_000228.1:n.*1671_*1672dup |