Canonical Allele Identifier: CA2667171259

Gene: HGD

Linked Data

• gnomAD v4: 3-120641610-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641612dup , CM000665.2:g.120641612dup	GRCh38
NC_000003.11:g.120360459dup , CM000665.1:g.120360459dup	GRCh37
NC_000003.10:g.121843149dup	NCBI36
NG_011957.1:g.45871dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.857dup MANE Select	ENSP00000283871.5:p.Asn286LysfsTer6
ENST00000283871.9:c.857dup	ENSP00000283871.5:p.Asn286LysfsTer6
ENST00000470321.1:n.197dup
ENST00000475447.2:c.285dup
ENST00000492108.5:c.263dup	ENSP00000419838.1:p.Asn88LysfsTer6
ENST00000494453.1:c.277dup
NM_000187.3:c.857dup	NP_000178.2:p.Asn286LysfsTer6
XM_005247412.1:c.632dup	XP_005247469.1:p.Asn211LysfsTer6
XM_005247413.1:c.857dup	XP_005247470.1:p.Asn286LysfsTer6
XM_011512746.1:c.857dup	XP_011511048.1:p.Asn286LysfsTer6
XM_005247412.2:c.632dup	XP_005247469.1:p.Asn211LysfsTer6
XM_005247413.2:c.857dup	XP_005247470.1:p.Asn286LysfsTer6
XM_011512746.2:c.857dup	XP_011511048.1:p.Asn286LysfsTer6
XM_017006277.2:c.434dup	XP_016861766.1:p.Asn145LysfsTer6
NM_000187.4:c.857dup MANE Select	NP_000178.2:p.Asn286LysfsTer6