Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352556_133352558del , CM000671.2:g.133352556_133352558del | GRCh38 |
| NC_000009.10:g.135209232_135209234del | NCBI36 |
| NG_008477.1:g.8951_8953del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.641_643del MANE Select | ENSP00000361042.3:p.Gln214del | |
| ENST00000371974.7:c.641_643del | ENSP00000361042.3:p.Gln214del | |
| ENST00000437995.1:n.551_553del | ||
| ENST00000495952.5:n.631_633del | ||
| ENST00000615505.4:c.314_316del | ENSP00000482067.1:p.Gln105del | |
| NM_001280787.1:c.314_316del | NP_001267716.1:p.Gln105del | |
| NM_003172.3:c.641_643del | NP_003163.1:p.Gln214del | |
| XM_011518942.1:c.314_316del | XP_011517244.1:p.Gln105del | |
| NM_003172.4:c.641_643del MANE Select | NP_003163.1:p.Gln214del |