Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012215_8012218dup , CM000679.2:g.8012215_8012218dup | GRCh38 |
| NC_000017.10:g.7915533_7915536dup , CM000679.1:g.7915533_7915536dup | GRCh37 |
| NC_000017.9:g.7856258_7856261dup | NCBI36 |
| NG_009092.1:g.14546_14549dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1821_1824dup MANE Select | ENSP00000254854.4:p.Ala609CysfsTer? | |
| ENST00000254854.4:c.1821_1824dup | ENSP00000254854.4:p.Ala609CysfsTer? | |
| NM_000180.3:c.1821_1824dup | NP_000171.1:p.Ala609CysfsTer? | |
| XM_011523816.1:c.1821_1824dup | XP_011522118.1:p.Ala609CysfsTer? | |
| NM_000180.4:c.1821_1824dup MANE Select | NP_000171.1:p.Ala609CysfsTer? |