Canonical Allele Identifier: CA2586972812

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674953del , CM000665.2:g.120674953del	GRCh38
NC_000003.11:g.120393800del , CM000665.1:g.120393800del	GRCh37
NC_000003.10:g.121876490del	NCBI36
NG_011957.1:g.12529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.124del MANE Select	ENSP00000283871.5:p.Glu42SerfsTer?
ENST00000283871.9:c.124del	ENSP00000283871.5:p.Glu42SerfsTer?
ENST00000466528.5:n.150del
ENST00000476082.2:c.53+839del	ENSP00000419560.2:n.53+839del
ENST00000480862.1:n.282del
ENST00000485313.5:n.232del
ENST00000488183.5:n.382del
NM_000187.3:c.124del	NP_000178.2:p.Glu42SerfsTer?
XM_005247412.1:c.124del	XP_005247469.1:p.Glu42SerfsTer?
XM_005247413.1:c.124del	XP_005247470.1:p.Glu42SerfsTer?
XM_005247414.3:c.124del	XP_005247471.1:p.Glu42SerfsTer?
XM_011512746.1:c.124del	XP_011511048.1:p.Glu42SerfsTer?
XM_005247412.2:c.124del	XP_005247469.1:p.Glu42SerfsTer?
XM_005247413.2:c.124del	XP_005247470.1:p.Glu42SerfsTer?
XM_005247414.5:c.124del	XP_005247471.1:p.Glu42SerfsTer?
XM_011512746.2:c.124del	XP_011511048.1:p.Glu42SerfsTer?
XM_017006277.2:c.-300del	XP_016861766.1:n.-300del
NM_000187.4:c.124del MANE Select	NP_000178.2:p.Glu42SerfsTer?