Canonical Allele Identifier: CA1397096591

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646375_120646376delinsGA , CM000665.2:g.120646375_120646376delinsGA	GRCh38
NC_000003.11:g.120365222_120365223delinsGA , CM000665.1:g.120365222_120365223delinsGA	GRCh37
NC_000003.10:g.121847912_121847913delinsGA	NCBI36
NG_011957.1:g.41106_41107delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-10_550-9delinsTC MANE Select	ENSP00000283871.5:n.550-10_550-9delinsTC
ENST00000283871.9:c.550-10_550-9delinsTC	ENSP00000283871.5:n.550-10_550-9delinsTC
ENST00000475447.2:c.81-10_81-9delinsTC
ENST00000492108.5:c.180+597_180+598delinsTC	ENSP00000419838.1:n.180+597_180+598delinsTC
NM_000187.3:c.550-10_550-9delinsTC	NP_000178.2:n.550-10_550-9delinsTC
XM_005247412.1:c.549+597_549+598delinsTC	XP_005247469.1:n.549+597_549+598delinsTC
XM_005247413.1:c.550-10_550-9delinsTC	XP_005247470.1:n.550-10_550-9delinsTC
XM_005247414.3:c.550-10_550-9delinsTC	XP_005247471.1:n.550-10_550-9delinsTC
XM_011512746.1:c.550-10_550-9delinsTC	XP_011511048.1:n.550-10_550-9delinsTC
XM_005247412.2:c.549+597_549+598delinsTC	XP_005247469.1:n.549+597_549+598delinsTC
XM_005247413.2:c.550-10_550-9delinsTC	XP_005247470.1:n.550-10_550-9delinsTC
XM_005247414.5:c.550-10_550-9delinsTC	XP_005247471.1:n.550-10_550-9delinsTC
XM_011512746.2:c.550-10_550-9delinsTC	XP_011511048.1:n.550-10_550-9delinsTC
XM_017006277.2:c.127-10_127-9delinsTC	XP_016861766.1:n.127-10_127-9delinsTC
NM_000187.4:c.550-10_550-9delinsTC MANE Select	NP_000178.2:n.550-10_550-9delinsTC