Canonical Allele Identifier: CA897933966

Gene: HGD

Linked Data

• dbSNP Id: rs1417975116
• gnomAD v3: 3-120675146-G-GC
• gnomAD v4: 3-120675146-G-GC
• MyVariant Identifiers: chr3:g.120393993_120393994insC (hg19) ; chr3:g.120675146_120675147insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675152dup , CM000665.2:g.120675152dup	GRCh38
NC_000003.11:g.120393999dup , CM000665.1:g.120393999dup	GRCh37
NC_000003.10:g.121876689dup	NCBI36
NG_011957.1:g.12335dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-158dup MANE Select	ENSP00000283871.5:n.88-158dup
ENST00000283871.9:c.88-158dup	ENSP00000283871.5:n.88-158dup
ENST00000466528.5:n.114-158dup
ENST00000476082.2:c.53+645dup	ENSP00000419560.2:n.53+645dup
ENST00000480862.1:n.246-158dup
ENST00000485313.5:n.196-158dup
ENST00000488183.5:n.346-158dup
NM_000187.3:c.88-158dup	NP_000178.2:n.88-158dup
XM_005247412.1:c.88-158dup	XP_005247469.1:n.88-158dup
XM_005247413.1:c.88-158dup	XP_005247470.1:n.88-158dup
XM_005247414.3:c.88-158dup	XP_005247471.1:n.88-158dup
XM_011512746.1:c.88-158dup	XP_011511048.1:n.88-158dup
XM_005247412.2:c.88-158dup	XP_005247469.1:n.88-158dup
XM_005247413.2:c.88-158dup	XP_005247470.1:n.88-158dup
XM_005247414.5:c.88-158dup	XP_005247471.1:n.88-158dup
XM_011512746.2:c.88-158dup	XP_011511048.1:n.88-158dup
XM_017006277.2:c.-336-158dup	XP_016861766.1:n.-336-158dup
NM_000187.4:c.88-158dup MANE Select	NP_000178.2:n.88-158dup