Allele Registry

HGVS	Genome Assembly
NC_000005.10:g.156508653_156508655delinsACT , CM000667.2:g.156508653_156508655delinsACT	GRCh38
NC_000005.9:g.155935663_155935665delinsACT , CM000667.1:g.155935663_155935665delinsACT	GRCh37
NC_000005.8:g.155868241_155868243delinsACT	NCBI36
NG_008693.2:g.643310_643312delinsACT , LRG_205:g.643310_643312delinsACT

HGVS	Amino-acid Change
ENST00000337851.9:c.245_247delinsACT MANE Select	ENSP00000338343.4:p.Asp82=
ENST00000337851.8:c.245_247delinsACT	ENSP00000338343.4:p.Asp82=
ENST00000435422.7:c.242_244delinsACT	ENSP00000403003.2:p.Asp81=
ENST00000517913.5:c.245_247delinsACT	ENSP00000429378.1:p.Asp82=
ENST00000524347.2:c.109_111delinsACT	ENSP00000430794.1:n.109_111delinsACT
NM_000337.5:c.245_247delinsACT , LRG_205t1:c.245_247delinsACT	NP_000328.2:p.Asp82=
NM_001128209.1:c.242_244delinsACT	NP_001121681.1:p.Asp81=
NM_172244.2:c.245_247delinsACT	NP_758447.1:p.Asp82=
XM_005265966.3:c.245_247delinsACT	XP_005266023.1:p.Asp82=
XM_005265967.1:c.245_247delinsACT	XP_005266024.1:p.Asp82=
XM_006714911.2:c.245_247delinsACT	XP_006714974.1:p.Asp82=
XM_011534621.1:c.242_244delinsACT	XP_011532923.1:p.Asp81=
XM_005265966.5:c.245_247delinsACT	XP_005266023.1:p.Asp82=
XM_005265967.2:c.245_247delinsACT	XP_005266024.1:p.Asp82=
XM_011534621.2:c.242_244delinsACT	XP_011532923.1:p.Asp81=
XM_017009723.2:c.245_247delinsACT	XP_016865212.1:p.Asp82=
XM_017009724.1:c.245_247delinsACT	XP_016865213.1:p.Asp82=
NM_001128209.2:c.242_244delinsACT	NP_001121681.1:p.Asp81=
NM_172244.3:c.245_247delinsACT	NP_758447.1:p.Asp82=
NM_000337.6:c.245_247delinsACT MANE Select	NP_000328.2:p.Asp82=