Canonical Allele Identifier: CA2582342886

Gene: HGD

Linked Data

• ClinVar Variation Id: 2584699
• ClinVar RCV Id: RCV003336667

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675794del , CM000665.2:g.120675794del	GRCh38
NC_000003.11:g.120394641del , CM000665.1:g.120394641del	GRCh37
NC_000003.10:g.121877331del	NCBI36
NG_011957.1:g.11688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.85del MANE Select	ENSP00000283871.5:p.Gln29ArgfsTer?
ENST00000283871.9:c.85del	ENSP00000283871.5:p.Gln29ArgfsTer?
ENST00000466528.5:n.111del
ENST00000476082.2:c.51del	ENSP00000419560.2:p.Asp17GlufsTer?
ENST00000480862.1:n.243del
ENST00000485313.5:n.193del
ENST00000488183.5:n.343del
NM_000187.3:c.85del	NP_000178.2:p.Gln29ArgfsTer?
XM_005247412.1:c.85del	XP_005247469.1:p.Gln29ArgfsTer?
XM_005247413.1:c.85del	XP_005247470.1:p.Gln29ArgfsTer?
XM_005247414.3:c.85del	XP_005247471.1:p.Gln29ArgfsTer?
XM_011512746.1:c.85del	XP_011511048.1:p.Gln29ArgfsTer?
XM_005247412.2:c.85del	XP_005247469.1:p.Gln29ArgfsTer?
XM_005247413.2:c.85del	XP_005247470.1:p.Gln29ArgfsTer?
XM_005247414.5:c.85del	XP_005247471.1:p.Gln29ArgfsTer?
XM_011512746.2:c.85del	XP_011511048.1:p.Gln29ArgfsTer?
XM_017006277.2:c.-339del	XP_016861766.1:n.-339del
NM_000187.4:c.85del MANE Select	NP_000178.2:p.Gln29ArgfsTer?