HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715794_37715796del , CM000684.2:g.37715794_37715796del | GRCh38 |
NC_000022.10:g.38111801_38111803del , CM000684.1:g.38111801_38111803del | GRCh37 |
NC_000022.9:g.36441747_36441749del | NCBI36 |
NG_012857.1:g.23807_23809del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.488_490del MANE Select | ENSP00000496394.1:p.Glu163del | |
ENST00000344404.10:c.286_288del | ENSP00000340312.6:p.Arg96del | |
ENST00000406386.7:c.488_490del | ENSP00000384312.3:p.Glu163del | |
ENST00000455236.4:c.1445_1447del | ENSP00000477208.1:n.1445_1447del | |
ENST00000492485.5:n.422_424del | ||
NM_001039141.2:c.488_490del | NP_001034230.1:p.Glu163del | |
NM_001039141.3:c.488_490del MANE Select | NP_001034230.1:p.Glu163del |