Canonical Allele Identifier: CA2580068604

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644420del , CM000665.2:g.120644420del	GRCh38
NC_000003.11:g.120363267del , CM000665.1:g.120363267del	GRCh37
NC_000003.10:g.121845957del	NCBI36
NG_011957.1:g.43062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.673del MANE Select	ENSP00000283871.5:p.Arg225ValfsTer4
ENST00000283871.9:c.673del	ENSP00000283871.5:p.Arg225ValfsTer4
ENST00000475447.2:c.202+178del
ENST00000492108.5:c.180+2553del	ENSP00000419838.1:n.180+2553del
ENST00000494453.1:c.93del
NM_000187.3:c.673del	NP_000178.2:p.Arg225ValfsTer4
XM_005247412.1:c.549+2553del	XP_005247469.1:n.549+2553del
XM_005247413.1:c.673del	XP_005247470.1:p.Arg225ValfsTer4
XM_011512746.1:c.673del	XP_011511048.1:p.Arg225ValfsTer4
XM_005247412.2:c.549+2553del	XP_005247469.1:n.549+2553del
XM_005247413.2:c.673del	XP_005247470.1:p.Arg225ValfsTer4
XM_005247414.5:c.*147del	XP_005247471.1:n.*147del
XM_011512746.2:c.673del	XP_011511048.1:p.Arg225ValfsTer4
XM_017006277.2:c.250del	XP_016861766.1:p.Arg84ValfsTer4
NM_000187.4:c.673del MANE Select	NP_000178.2:p.Arg225ValfsTer4