HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18785987del , CM000681.2:g.18785987del | GRCh38 |
NC_000019.9:g.18896797del , CM000681.1:g.18896797del | GRCh37 |
NC_000019.8:g.18757797del | NCBI36 |
NG_007070.1:g.10321del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1470del MANE Select | ENSP00000222271.2:p.Gly491AlafsTer24 | |
ENST00000222271.6:c.1470del | ENSP00000222271.2:p.Gly491AlafsTer24 | |
ENST00000425807.1:c.1311del | ENSP00000403792.1:p.Gly438AlafsTer24 | |
ENST00000542601.6:c.1371del | ENSP00000439156.2:p.Gly458AlafsTer24 | |
NM_000095.2:c.1470del | NP_000086.2:p.Gly491AlafsTer24 | |
NM_000095.3:c.1470del MANE Select | NP_000086.2:p.Gly491AlafsTer24 |