HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571752_154571754del , CM000663.2:g.154571752_154571754del | GRCh38 |
NC_000001.10:g.154544228_154544230del , CM000663.1:g.154544228_154544230del | GRCh37 |
NC_000001.9:g.152810852_152810854del | NCBI36 |
NG_008027.1:g.8972_8974del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.929_931del MANE Select | ENSP00000357461.3:p.Phe310del | |
ENST00000636034.1:c.929_931del | ENSP00000489703.1:p.Phe310del | |
ENST00000637900.1:c.935_937del | ENSP00000490474.1:p.Phe312del | |
ENST00000368476.3:c.929_931del | ENSP00000357461.3:p.Phe310del | |
NM_000748.2:c.929_931del | NP_000739.1:p.Phe310del | |
XM_017000180.2:c.419_421del | XP_016855669.1:p.Phe140del | |
XR_001736952.2:n.1181_1183del | ||
NM_000748.3:c.929_931del MANE Select | NP_000739.1:p.Phe310del |