Canonical Allele Identifier: CA2577865405

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675718_120675719del , CM000665.2:g.120675718_120675719del	GRCh38
NC_000003.11:g.120394565_120394566del , CM000665.1:g.120394565_120394566del	GRCh37
NC_000003.10:g.121877255_121877256del	NCBI36
NG_011957.1:g.11764_11765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.87+74_87+75del MANE Select	ENSP00000283871.5:n.87+74_87+75del
ENST00000283871.9:c.87+74_87+75del	ENSP00000283871.5:n.87+74_87+75del
ENST00000466528.5:n.113+74_113+75del
ENST00000476082.2:c.53+74_53+75del	ENSP00000419560.2:n.53+74_53+75del
ENST00000480862.1:n.245+74_245+75del
ENST00000485313.5:n.195+74_195+75del
ENST00000488183.5:n.345+74_345+75del
NM_000187.3:c.87+74_87+75del	NP_000178.2:n.87+74_87+75del
XM_005247412.1:c.87+74_87+75del	XP_005247469.1:n.87+74_87+75del
XM_005247413.1:c.87+74_87+75del	XP_005247470.1:n.87+74_87+75del
XM_005247414.3:c.87+74_87+75del	XP_005247471.1:n.87+74_87+75del
XM_011512746.1:c.87+74_87+75del	XP_011511048.1:n.87+74_87+75del
XM_005247412.2:c.87+74_87+75del	XP_005247469.1:n.87+74_87+75del
XM_005247413.2:c.87+74_87+75del	XP_005247470.1:n.87+74_87+75del
XM_005247414.5:c.87+74_87+75del	XP_005247471.1:n.87+74_87+75del
XM_011512746.2:c.87+74_87+75del	XP_011511048.1:n.87+74_87+75del
XM_017006277.2:c.-337+74_-337+75del	XP_016861766.1:n.-337+74_-337+75del
NM_000187.4:c.87+74_87+75del MANE Select	NP_000178.2:n.87+74_87+75del