Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151421135T= , CM000668.2:g.151421135T=	GRCh38
NC_000006.11:g.151742270T= , CM000668.1:g.151742270T=	GRCh37
NC_000006.10:g.151783963T=	NCBI36
NG_033031.1:g.36047A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644054.2:c.*361+110A=	ENSP00000496328.2:n.*361+110A=
ENST00000646926.2:c.*39+110A=	ENSP00000494215.2:n.*39+110A=
ENST00000682004.1:n.2469+110A=
ENST00000682299.1:c.1002+1406A=	ENSP00000506811.1:n.1002+1406A=
ENST00000682392.1:c.1079+110A=	ENSP00000508314.1:n.1079+110A=
ENST00000682641.1:c.1079+110A=	ENSP00000506793.1:n.1079+110A=
ENST00000683439.1:n.3362+110A=
ENST00000683724.1:c.1079+110A=	ENSP00000507984.1:n.1079+110A=
ENST00000684301.1:c.*478+110A=	ENSP00000507824.1:n.*478+110A=
ENST00000684605.1:n.1619+110A=
ENST00000684658.1:n.1224+110A=
ENST00000684715.1:n.1224+110A=
ENST00000684765.1:c.1079+110A=	ENSP00000507910.1:n.1079+110A=
ENST00000336451.8:c.*478+110A=	ENSP00000336683.4:n.*478+110A=
ENST00000444024.3:c.1079+110A= MANE Select	ENSP00000412708.2:n.1079+110A=
ENST00000622845.5:c.569+110A=	ENSP00000481280.1:n.569+110A=
ENST00000644054.1:c.1002+110A=
ENST00000644711.1:c.1079+110A=	ENSP00000494106.1:n.1079+110A=
ENST00000645367.1:n.1167A=
ENST00000645895.1:n.1196+110A=
ENST00000646926.1:c.422+110A=
ENST00000336451.7:c.446+110A=	ENSP00000336683.3:n.446+110A=
ENST00000367303.8:c.1079+110A=	ENSP00000356272.4:n.1079+110A=
ENST00000444024.1:c.569+110A=	ENSP00000412708.1:n.569+110A=
ENST00000622845.4:c.569+110A=	ENSP00000481280.1:n.569+110A=
NM_001271937.1:c.569+110A=	NP_001258866.1:n.569+110A=
NM_017909.3:c.1079+110A=	NP_060379.2:n.1079+110A=
XM_005267040.2:c.446+110A=	XP_005267097.1:n.446+110A=
XR_942497.1:n.1259+110A=
XM_005267040.4:c.446+110A=	XP_005267097.1:n.446+110A=
XM_017010988.2:c.446+110A=	XP_016866477.1:n.446+110A=
XR_001743503.2:n.1247+110A=
XR_002956288.1:n.1204+110A=
NM_017909.4:c.1079+110A= MANE Select	NP_060379.2:n.1079+110A=
NM_001271937.2:c.569+110A=	NP_001258866.1:n.569+110A=