Canonical Allele Identifier: CA1397096670

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646541_120646542delinsTA , CM000665.2:g.120646541_120646542delinsTA	GRCh38
NC_000003.11:g.120365388_120365389delinsTA , CM000665.1:g.120365388_120365389delinsTA	GRCh37
NC_000003.10:g.121848078_121848079delinsTA	NCBI36
NG_011957.1:g.40940_40941delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-176_550-175delinsTA MANE Select	ENSP00000283871.5:n.550-176_550-175delinsTA
ENST00000283871.9:c.550-176_550-175delinsTA	ENSP00000283871.5:n.550-176_550-175delinsTA
ENST00000475447.2:c.81-176_81-175delinsTA
ENST00000492108.5:c.180+431_180+432delinsTA	ENSP00000419838.1:n.180+431_180+432delinsTA
NM_000187.3:c.550-176_550-175delinsTA	NP_000178.2:n.550-176_550-175delinsTA
XM_005247412.1:c.549+431_549+432delinsTA	XP_005247469.1:n.549+431_549+432delinsTA
XM_005247413.1:c.550-176_550-175delinsTA	XP_005247470.1:n.550-176_550-175delinsTA
XM_005247414.3:c.550-176_550-175delinsTA	XP_005247471.1:n.550-176_550-175delinsTA
XM_011512746.1:c.550-176_550-175delinsTA	XP_011511048.1:n.550-176_550-175delinsTA
XM_005247412.2:c.549+431_549+432delinsTA	XP_005247469.1:n.549+431_549+432delinsTA
XM_005247413.2:c.550-176_550-175delinsTA	XP_005247470.1:n.550-176_550-175delinsTA
XM_005247414.5:c.550-176_550-175delinsTA	XP_005247471.1:n.550-176_550-175delinsTA
XM_011512746.2:c.550-176_550-175delinsTA	XP_011511048.1:n.550-176_550-175delinsTA
XM_017006277.2:c.127-176_127-175delinsTA	XP_016861766.1:n.127-176_127-175delinsTA
NM_000187.4:c.550-176_550-175delinsTA MANE Select	NP_000178.2:n.550-176_550-175delinsTA