Canonical Allele Identifier: CA2758136660

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646508_120646509insCTT , CM000665.2:g.120646508_120646509insCTT	GRCh38
NC_000003.11:g.120365355_120365356insCTT , CM000665.1:g.120365355_120365356insCTT	GRCh37
NC_000003.10:g.121848045_121848046insCTT	NCBI36
NG_011957.1:g.40973_40974insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-143_550-142insAAG MANE Select	ENSP00000283871.5:n.550-143_550-142insAAG
ENST00000283871.9:c.550-143_550-142insAAG	ENSP00000283871.5:n.550-143_550-142insAAG
ENST00000475447.2:c.81-143_81-142insAAG
ENST00000492108.5:c.180+464_180+465insAAG	ENSP00000419838.1:n.180+464_180+465insAAG
NM_000187.3:c.550-143_550-142insAAG	NP_000178.2:n.550-143_550-142insAAG
XM_005247412.1:c.549+464_549+465insAAG	XP_005247469.1:n.549+464_549+465insAAG
XM_005247413.1:c.550-143_550-142insAAG	XP_005247470.1:n.550-143_550-142insAAG
XM_005247414.3:c.550-143_550-142insAAG	XP_005247471.1:n.550-143_550-142insAAG
XM_011512746.1:c.550-143_550-142insAAG	XP_011511048.1:n.550-143_550-142insAAG
XM_005247412.2:c.549+464_549+465insAAG	XP_005247469.1:n.549+464_549+465insAAG
XM_005247413.2:c.550-143_550-142insAAG	XP_005247470.1:n.550-143_550-142insAAG
XM_005247414.5:c.550-143_550-142insAAG	XP_005247471.1:n.550-143_550-142insAAG
XM_011512746.2:c.550-143_550-142insAAG	XP_011511048.1:n.550-143_550-142insAAG
XM_017006277.2:c.127-143_127-142insAAG	XP_016861766.1:n.127-143_127-142insAAG
NM_000187.4:c.550-143_550-142insAAG MANE Select	NP_000178.2:n.550-143_550-142insAAG