HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912610_4912611del , CM000674.2:g.4912610_4912611del | GRCh38 |
NC_000012.11:g.5021776_5021777del , CM000674.1:g.5021776_5021777del | GRCh37 |
NC_000012.10:g.4892037_4892038del | NCBI36 |
NG_011815.1:g.7704_7705del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1232_1233del MANE Select | ENSP00000371985.3:p.Phe411Ter | |
ENST00000543874.3:n.105+2138_105+2139del | ||
ENST00000639306.1:c.1070_1071del | ENSP00000492506.1:p.Phe357Ter | |
ENST00000639680.1:c.76+344_76+345del | ||
ENST00000382545.3:c.1232_1233del | ENSP00000371985.3:p.Phe411Ter | |
ENST00000541095.1:n.105+2138_105+2139del | ||
ENST00000543874.2:n.96+2138_96+2139del | ||
NM_000217.2:c.1232_1233del | NP_000208.2:p.Phe411Ter | |
NM_000217.3:c.1232_1233del MANE Select | NP_000208.2:p.Phe411Ter |