Canonical Allele Identifier: CA2667172970

Gene: HGD

Linked Data

• gnomAD v4: 3-120674718-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674720del , CM000665.2:g.120674720del	GRCh38
NC_000003.11:g.120393567del , CM000665.1:g.120393567del	GRCh37
NC_000003.10:g.121876257del	NCBI36
NG_011957.1:g.12763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.176+182del MANE Select	ENSP00000283871.5:n.176+182del
ENST00000283871.9:c.176+182del	ENSP00000283871.5:n.176+182del
ENST00000466528.5:n.202+182del
ENST00000476082.2:c.53+1073del	ENSP00000419560.2:n.53+1073del
ENST00000480862.1:n.516del
ENST00000485313.5:n.284+182del
ENST00000488183.5:n.434+182del
NM_000187.3:c.176+182del	NP_000178.2:n.176+182del
XM_005247412.1:c.176+182del	XP_005247469.1:n.176+182del
XM_005247413.1:c.176+182del	XP_005247470.1:n.176+182del
XM_005247414.3:c.176+182del	XP_005247471.1:n.176+182del
XM_011512746.1:c.176+182del	XP_011511048.1:n.176+182del
XM_005247412.2:c.176+182del	XP_005247469.1:n.176+182del
XM_005247413.2:c.176+182del	XP_005247470.1:n.176+182del
XM_005247414.5:c.176+182del	XP_005247471.1:n.176+182del
XM_011512746.2:c.176+182del	XP_011511048.1:n.176+182del
XM_017006277.2:c.-248+182del	XP_016861766.1:n.-248+182del
NM_000187.4:c.176+182del MANE Select	NP_000178.2:n.176+182del