Canonical Allele Identifier: CA1397098584

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650861_120650862delinsAG , CM000665.2:g.120650861_120650862delinsAG	GRCh38
NC_000003.11:g.120369708_120369709delinsAG , CM000665.1:g.120369708_120369709delinsAG	GRCh37
NC_000003.10:g.121852398_121852399delinsAG	NCBI36
NG_011957.1:g.36620_36621delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.346_347delinsCT MANE Select	ENSP00000283871.5:p.Leu116=
ENST00000283871.9:c.346_347delinsCT	ENSP00000283871.5:p.Leu116=
ENST00000476082.2:c.223_224delinsCT	ENSP00000419560.2:p.Leu75=
ENST00000485313.5:n.454_455delinsCT
NM_000187.3:c.346_347delinsCT	NP_000178.2:p.Leu116=
XM_005247412.1:c.346_347delinsCT	XP_005247469.1:p.Leu116=
XM_005247413.1:c.346_347delinsCT	XP_005247470.1:p.Leu116=
XM_005247414.3:c.346_347delinsCT	XP_005247471.1:p.Leu116=
XM_011512746.1:c.346_347delinsCT	XP_011511048.1:p.Leu116=
XM_005247412.2:c.346_347delinsCT	XP_005247469.1:p.Leu116=
XM_005247413.2:c.346_347delinsCT	XP_005247470.1:p.Leu116=
XM_005247414.5:c.346_347delinsCT	XP_005247471.1:p.Leu116=
XM_011512746.2:c.346_347delinsCT	XP_011511048.1:p.Leu116=
XM_017006277.2:c.-78_-77delinsCT	XP_016861766.1:n.-78_-77delinsCT
NM_000187.4:c.346_347delinsCT MANE Select	NP_000178.2:p.Leu116=