Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112830539_112830544del , CM000664.2:g.112830539_112830544del | GRCh38 |
| NC_000002.11:g.113588116_113588121del , CM000664.1:g.113588116_113588121del | GRCh37 |
| NC_000002.10:g.113304587_113304592del | NCBI36 |
| NG_008851.1:g.11237_11242del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263341.7:c.628_633del MANE Select | ENSP00000263341.2:p.Lys210_Met211del | |
| ENST00000263341.6:c.628_633del | ENSP00000263341.2:p.Lys210_Met211del | |
| ENST00000491056.5:n.1435_1440del | ||
| NM_000576.2:c.628_633del | NP_000567.1:p.Lys210_Met211del | |
| XM_006712496.1:c.394_399del | XP_006712559.1:p.Lys132_Met133del | |
| XM_017003988.2:c.535_540del | XP_016859477.1:p.Lys179_Met180del | |
| NM_000576.3:c.628_633del MANE Select | NP_000567.1:p.Lys210_Met211del |