HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571215_154571217del , CM000663.2:g.154571215_154571217del | GRCh38 |
NC_000001.10:g.154543691_154543693del , CM000663.1:g.154543691_154543693del | GRCh37 |
NC_000001.9:g.152810315_152810317del | NCBI36 |
NG_008027.1:g.8435_8437del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.392_394del MANE Select | ENSP00000357461.3:p.Phe131del | |
ENST00000636034.1:c.392_394del | ENSP00000489703.1:p.Phe131del | |
ENST00000637900.1:c.398_400del | ENSP00000490474.1:p.Phe133del | |
ENST00000368476.3:c.392_394del | ENSP00000357461.3:p.Phe131del | |
NM_000748.2:c.392_394del | NP_000739.1:p.Phe131del | |
XM_017000180.2:c.-9-110_-9-108del | XP_016855669.1:n.-9-110_-9-108del | |
XR_001736952.2:n.644_646del | ||
NM_000748.3:c.392_394del MANE Select | NP_000739.1:p.Phe131del |