Canonical Allele Identifier: CA1052833987

Gene: HGD

Linked Data

• dbSNP Id: rs1708097067
• gnomAD v3: 3-120675020-C-CTCCCA
• gnomAD v4: 3-120675020-C-CTCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675024_120675028dup , CM000665.2:g.120675024_120675028dup	GRCh38
NC_000003.11:g.120393871_120393875dup , CM000665.1:g.120393871_120393875dup	GRCh37
NC_000003.10:g.121876561_121876565dup	NCBI36
NG_011957.1:g.12457_12461dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-36_88-32dup MANE Select	ENSP00000283871.5:n.88-36_88-32dup
ENST00000283871.9:c.88-36_88-32dup	ENSP00000283871.5:n.88-36_88-32dup
ENST00000466528.5:n.114-36_114-32dup
ENST00000476082.2:c.53+767_53+771dup	ENSP00000419560.2:n.53+767_53+771dup
ENST00000480862.1:n.246-36_246-32dup
ENST00000485313.5:n.196-36_196-32dup
ENST00000488183.5:n.346-36_346-32dup
NM_000187.3:c.88-36_88-32dup	NP_000178.2:n.88-36_88-32dup
XM_005247412.1:c.88-36_88-32dup	XP_005247469.1:n.88-36_88-32dup
XM_005247413.1:c.88-36_88-32dup	XP_005247470.1:n.88-36_88-32dup
XM_005247414.3:c.88-36_88-32dup	XP_005247471.1:n.88-36_88-32dup
XM_011512746.1:c.88-36_88-32dup	XP_011511048.1:n.88-36_88-32dup
XM_005247412.2:c.88-36_88-32dup	XP_005247469.1:n.88-36_88-32dup
XM_005247413.2:c.88-36_88-32dup	XP_005247470.1:n.88-36_88-32dup
XM_005247414.5:c.88-36_88-32dup	XP_005247471.1:n.88-36_88-32dup
XM_011512746.2:c.88-36_88-32dup	XP_011511048.1:n.88-36_88-32dup
XM_017006277.2:c.-336-36_-336-32dup	XP_016861766.1:n.-336-36_-336-32dup
NM_000187.4:c.88-36_88-32dup MANE Select	NP_000178.2:n.88-36_88-32dup