Canonical Allele Identifier: CA2580068602

Gene: HGD

Linked Data

• ClinVar Variation Id: 2004589
• ClinVar RCV Id: RCV002816201

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674944del , CM000665.2:g.120674944del	GRCh38
NC_000003.11:g.120393791del , CM000665.1:g.120393791del	GRCh37
NC_000003.10:g.121876481del	NCBI36
NG_011957.1:g.12538del

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.133del MANE Select	ENSP00000283871.5:p.Ser45GlnfsTer?
ENST00000283871.9:c.133del	ENSP00000283871.5:p.Ser45GlnfsTer?
ENST00000466528.5:n.159del
ENST00000476082.2:c.53+848del	ENSP00000419560.2:n.53+848del
ENST00000480862.1:n.291del
ENST00000485313.5:n.241del
ENST00000488183.5:n.391del
NM_000187.3:c.133del	NP_000178.2:p.Ser45GlnfsTer?
XM_005247412.1:c.133del	XP_005247469.1:p.Ser45GlnfsTer?
XM_005247413.1:c.133del	XP_005247470.1:p.Ser45GlnfsTer?
XM_005247414.3:c.133del	XP_005247471.1:p.Ser45GlnfsTer?
XM_011512746.1:c.133del	XP_011511048.1:p.Ser45GlnfsTer?
XM_005247412.2:c.133del	XP_005247469.1:p.Ser45GlnfsTer?
XM_005247413.2:c.133del	XP_005247470.1:p.Ser45GlnfsTer?
XM_005247414.5:c.133del	XP_005247471.1:p.Ser45GlnfsTer?
XM_011512746.2:c.133del	XP_011511048.1:p.Ser45GlnfsTer?
XM_017006277.2:c.-291del	XP_016861766.1:n.-291del
NM_000187.4:c.133del MANE Select	NP_000178.2:p.Ser45GlnfsTer?