Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21239038_21239042del , CM000674.2:g.21239038_21239042del | GRCh38 |
| NC_000012.11:g.21391972_21391976del , CM000674.1:g.21391972_21391976del | GRCh37 |
| NC_000012.10:g.21283239_21283243del | NCBI36 |
| NG_011745.1:g.112845_112849del , LRG_1022:g.112845_112849del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.1925_1929del MANE Select | ENSP00000256958.2:p.Ile642AsnfsTer24 | |
| ENST00000256958.2:c.1925_1929del | ENSP00000256958.2:p.Ile642AsnfsTer24 | |
| NM_006446.4:c.1925_1929del , LRG_1022t1:c.1925_1929del | NP_006437.3:p.Ile642AsnfsTer24 | |
| NM_006446.5:c.1925_1929del MANE Select | NP_006437.3:p.Ile642AsnfsTer24 |