Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8011999_8012000dup , CM000679.2:g.8011999_8012000dup | GRCh38 |
| NC_000017.10:g.7915317_7915318dup , CM000679.1:g.7915317_7915318dup | GRCh37 |
| NC_000017.9:g.7856042_7856043dup | NCBI36 |
| NG_009092.1:g.14330_14331dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1750-145_1750-144dup MANE Select | ENSP00000254854.4:n.1750-145_1750-144dup | |
| ENST00000254854.4:c.1750-145_1750-144dup | ENSP00000254854.4:n.1750-145_1750-144dup | |
| NM_000180.3:c.1750-145_1750-144dup | NP_000171.1:n.1750-145_1750-144dup | |
| XM_011523816.1:c.1750-145_1750-144dup | XP_011522118.1:n.1750-145_1750-144dup | |
| NM_000180.4:c.1750-145_1750-144dup MANE Select | NP_000171.1:n.1750-145_1750-144dup |