Canonical Allele Identifier: CA2667171086

Gene: HGD

Linked Data

• gnomAD v4: 3-120638656-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638656_120638657insTG , CM000665.2:g.120638656_120638657insTG	GRCh38
NC_000003.11:g.120357503_120357504insTG , CM000665.1:g.120357503_120357504insTG	GRCh37
NC_000003.10:g.121840193_121840194insTG	NCBI36
NG_011957.1:g.48825_48826insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.880-76_880-75insCA MANE Select	ENSP00000283871.5:n.880-76_880-75insCA
ENST00000283871.9:c.880-76_880-75insCA	ENSP00000283871.5:n.880-76_880-75insCA
ENST00000470321.1:n.220-76_220-75insCA
ENST00000475447.2:c.307+2932_307+2933insCA
ENST00000492108.5:c.285+2932_285+2933insCA	ENSP00000419838.1:n.285+2932_285+2933insCA
ENST00000494453.1:c.300-76_300-75insCA
NM_000187.3:c.880-76_880-75insCA	NP_000178.2:n.880-76_880-75insCA
XM_005247412.1:c.655-76_655-75insCA	XP_005247469.1:n.655-76_655-75insCA
XM_005247413.1:c.880-76_880-75insCA	XP_005247470.1:n.880-76_880-75insCA
XM_011512746.1:c.879+2932_879+2933insCA	XP_011511048.1:n.879+2932_879+2933insCA
XM_005247412.2:c.655-76_655-75insCA	XP_005247469.1:n.655-76_655-75insCA
XM_005247413.2:c.880-76_880-75insCA	XP_005247470.1:n.880-76_880-75insCA
XM_011512746.2:c.879+2932_879+2933insCA	XP_011511048.1:n.879+2932_879+2933insCA
XM_017006277.2:c.457-76_457-75insCA	XP_016861766.1:n.457-76_457-75insCA
NM_000187.4:c.880-76_880-75insCA MANE Select	NP_000178.2:n.880-76_880-75insCA