Canonical Allele Identifier: CA16040887

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638496dup , CM000665.2:g.120638496dup	GRCh38
NC_000003.11:g.120357343dup , CM000665.1:g.120357343dup	GRCh37
NC_000003.10:g.121840033dup	NCBI36
NG_011957.1:g.48991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.970dup MANE Select	ENSP00000283871.5:p.Val324GlyfsTer3
ENST00000283871.9:c.970dup	ENSP00000283871.5:p.Val324GlyfsTer3
ENST00000470321.1:n.310dup
ENST00000475447.2:c.307+3098dup
ENST00000492108.5:c.285+3098dup	ENSP00000419838.1:n.285+3098dup
ENST00000494453.1:c.390dup
NM_000187.3:c.970dup	NP_000178.2:p.Val324GlyfsTer3
XM_005247412.1:c.745dup	XP_005247469.1:p.Val249GlyfsTer3
XM_005247413.1:c.970dup	XP_005247470.1:p.Val324GlyfsTer3
XM_011512746.1:c.879+3098dup	XP_011511048.1:n.879+3098dup
XM_005247412.2:c.745dup	XP_005247469.1:p.Val249GlyfsTer3
XM_005247413.2:c.970dup	XP_005247470.1:p.Val324GlyfsTer3
XM_011512746.2:c.879+3098dup	XP_011511048.1:n.879+3098dup
XM_017006277.2:c.547dup	XP_016861766.1:p.Val183GlyfsTer3
NM_000187.4:c.970dup MANE Select	NP_000178.2:p.Val324GlyfsTer3