Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182586141_182586144dup , CM000663.2:g.182586141_182586144dup | GRCh38 |
| NC_000001.10:g.182555276_182555279dup , CM000663.1:g.182555276_182555279dup | GRCh37 |
| NC_000001.9:g.180821899_180821902dup | NCBI36 |
| NG_009024.2:g.5830_5833dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.663_666dup MANE Select | ENSP00000356530.3:p.His223TyrfsTer10 | |
| ENST00000539397.1:c.663_666dup | ENSP00000440844.1:p.His223TyrfsTer10 | |
| NM_021133.3:c.663_666dup | NP_066956.1:p.His223TyrfsTer10 | |
| XM_005245411.2:c.663_666dup | XP_005245468.1:p.His223TyrfsTer10 | |
| XR_001737359.1:n.946_949dup | ||
| XR_001737360.1:n.946_949dup | ||
| NM_021133.4:c.663_666dup MANE Select | NP_066956.1:p.His223TyrfsTer10 |