Canonical Allele Identifier: CA2577865241

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670444del , CM000665.2:g.120670444del	GRCh38
NC_000003.11:g.120389291del , CM000665.1:g.120389291del	GRCh37
NC_000003.10:g.121871981del	NCBI36
NG_011957.1:g.17038del

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.265del MANE Select	ENSP00000283871.5:p.Asp89IlefsTer22
ENST00000283871.9:c.265del	ENSP00000283871.5:p.Asp89IlefsTer22
ENST00000466528.5:n.291del
ENST00000476082.2:c.142del	ENSP00000419560.2:p.Asp48IlefsTer22
ENST00000485313.5:n.373del
ENST00000488183.5:n.523del
NM_000187.3:c.265del	NP_000178.2:p.Asp89IlefsTer22
XM_005247412.1:c.265del	XP_005247469.1:p.Asp89IlefsTer22
XM_005247413.1:c.265del	XP_005247470.1:p.Asp89IlefsTer22
XM_005247414.3:c.265del	XP_005247471.1:p.Asp89IlefsTer22
XM_011512746.1:c.265del	XP_011511048.1:p.Asp89IlefsTer22
XM_005247412.2:c.265del	XP_005247469.1:p.Asp89IlefsTer22
XM_005247413.2:c.265del	XP_005247470.1:p.Asp89IlefsTer22
XM_005247414.5:c.265del	XP_005247471.1:p.Asp89IlefsTer22
XM_011512746.2:c.265del	XP_011511048.1:p.Asp89IlefsTer22
XM_017006277.2:c.-159del	XP_016861766.1:n.-159del
NM_000187.4:c.265del MANE Select	NP_000178.2:p.Asp89IlefsTer22