Canonical Allele Identifier: CA81810655

Gene: HGD

Linked Data

• dbSNP Id: rs760986003
• MyVariant Identifiers: chr3:g.120394143_120394178del (hg19) ; chr3:g.120675296_120675331del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675297_120675332del , CM000665.2:g.120675297_120675332del	GRCh38
NC_000003.11:g.120394144_120394179del , CM000665.1:g.120394144_120394179del	GRCh37
NC_000003.10:g.121876834_121876869del	NCBI36
NG_011957.1:g.12151_12186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-342_88-307del MANE Select	ENSP00000283871.5:n.88-342_88-307del
ENST00000283871.9:c.88-342_88-307del	ENSP00000283871.5:n.88-342_88-307del
ENST00000466528.5:n.114-342_114-307del
ENST00000476082.2:c.53+461_53+496del	ENSP00000419560.2:n.53+461_53+496del
ENST00000480862.1:n.246-342_246-307del
ENST00000485313.5:n.196-342_196-307del
ENST00000488183.5:n.346-342_346-307del
NM_000187.3:c.88-342_88-307del	NP_000178.2:n.88-342_88-307del
XM_005247412.1:c.88-342_88-307del	XP_005247469.1:n.88-342_88-307del
XM_005247413.1:c.88-342_88-307del	XP_005247470.1:n.88-342_88-307del
XM_005247414.3:c.88-342_88-307del	XP_005247471.1:n.88-342_88-307del
XM_011512746.1:c.88-342_88-307del	XP_011511048.1:n.88-342_88-307del
XM_005247412.2:c.88-342_88-307del	XP_005247469.1:n.88-342_88-307del
XM_005247413.2:c.88-342_88-307del	XP_005247470.1:n.88-342_88-307del
XM_005247414.5:c.88-342_88-307del	XP_005247471.1:n.88-342_88-307del
XM_011512746.2:c.88-342_88-307del	XP_011511048.1:n.88-342_88-307del
XM_017006277.2:c.-336-342_-336-307del	XP_016861766.1:n.-336-342_-336-307del
NM_000187.4:c.88-342_88-307del MANE Select	NP_000178.2:n.88-342_88-307del