Canonical Allele Identifier: CA1397093166

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638666_120638667delinsGT , CM000665.2:g.120638666_120638667delinsGT	GRCh38
NC_000003.11:g.120357513_120357514delinsGT , CM000665.1:g.120357513_120357514delinsGT	GRCh37
NC_000003.10:g.121840203_121840204delinsGT	NCBI36
NG_011957.1:g.48815_48816delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.880-86_880-85delinsAC MANE Select	ENSP00000283871.5:n.880-86_880-85delinsAC
ENST00000283871.9:c.880-86_880-85delinsAC	ENSP00000283871.5:n.880-86_880-85delinsAC
ENST00000470321.1:n.220-86_220-85delinsAC
ENST00000475447.2:c.307+2922_307+2923delinsAC
ENST00000492108.5:c.285+2922_285+2923delinsAC	ENSP00000419838.1:n.285+2922_285+2923delinsAC
ENST00000494453.1:c.300-86_300-85delinsAC
NM_000187.3:c.880-86_880-85delinsAC	NP_000178.2:n.880-86_880-85delinsAC
XM_005247412.1:c.655-86_655-85delinsAC	XP_005247469.1:n.655-86_655-85delinsAC
XM_005247413.1:c.880-86_880-85delinsAC	XP_005247470.1:n.880-86_880-85delinsAC
XM_011512746.1:c.879+2922_879+2923delinsAC	XP_011511048.1:n.879+2922_879+2923delinsAC
XM_005247412.2:c.655-86_655-85delinsAC	XP_005247469.1:n.655-86_655-85delinsAC
XM_005247413.2:c.880-86_880-85delinsAC	XP_005247470.1:n.880-86_880-85delinsAC
XM_011512746.2:c.879+2922_879+2923delinsAC	XP_011511048.1:n.879+2922_879+2923delinsAC
XM_017006277.2:c.457-86_457-85delinsAC	XP_016861766.1:n.457-86_457-85delinsAC
NM_000187.4:c.880-86_880-85delinsAC MANE Select	NP_000178.2:n.880-86_880-85delinsAC