HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571704_154571705del , CM000663.2:g.154571704_154571705del | GRCh38 |
NC_000001.10:g.154544180_154544181del , CM000663.1:g.154544180_154544181del | GRCh37 |
NC_000001.9:g.152810804_152810805del | NCBI36 |
NG_008027.1:g.8924_8925del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.881_882del MANE Select | ENSP00000357461.3:p.Val294AlafsTer? | |
ENST00000636034.1:c.881_882del | ENSP00000489703.1:p.Val294AlafsTer? | |
ENST00000637900.1:c.887_888del | ENSP00000490474.1:p.Val296AlafsTer? | |
ENST00000368476.3:c.881_882del | ENSP00000357461.3:p.Val294AlafsTer? | |
NM_000748.2:c.881_882del | NP_000739.1:p.Val294AlafsTer? | |
XM_017000180.2:c.371_372del | XP_016855669.1:p.Val124AlafsTer? | |
XR_001736952.2:n.1133_1134del | ||
NM_000748.3:c.881_882del MANE Select | NP_000739.1:p.Val294AlafsTer? |