Canonical Allele Identifier: CA1397096638

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646485_120646486delinsCT , CM000665.2:g.120646485_120646486delinsCT	GRCh38
NC_000003.11:g.120365332_120365333delinsCT , CM000665.1:g.120365332_120365333delinsCT	GRCh37
NC_000003.10:g.121848022_121848023delinsCT	NCBI36
NG_011957.1:g.40996_40997delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-120_550-119delinsAG MANE Select	ENSP00000283871.5:n.550-120_550-119delinsAG
ENST00000283871.9:c.550-120_550-119delinsAG	ENSP00000283871.5:n.550-120_550-119delinsAG
ENST00000475447.2:c.81-120_81-119delinsAG
ENST00000492108.5:c.180+487_180+488delinsAG	ENSP00000419838.1:n.180+487_180+488delinsAG
NM_000187.3:c.550-120_550-119delinsAG	NP_000178.2:n.550-120_550-119delinsAG
XM_005247412.1:c.549+487_549+488delinsAG	XP_005247469.1:n.549+487_549+488delinsAG
XM_005247413.1:c.550-120_550-119delinsAG	XP_005247470.1:n.550-120_550-119delinsAG
XM_005247414.3:c.550-120_550-119delinsAG	XP_005247471.1:n.550-120_550-119delinsAG
XM_011512746.1:c.550-120_550-119delinsAG	XP_011511048.1:n.550-120_550-119delinsAG
XM_005247412.2:c.549+487_549+488delinsAG	XP_005247469.1:n.549+487_549+488delinsAG
XM_005247413.2:c.550-120_550-119delinsAG	XP_005247470.1:n.550-120_550-119delinsAG
XM_005247414.5:c.550-120_550-119delinsAG	XP_005247471.1:n.550-120_550-119delinsAG
XM_011512746.2:c.550-120_550-119delinsAG	XP_011511048.1:n.550-120_550-119delinsAG
XM_017006277.2:c.127-120_127-119delinsAG	XP_016861766.1:n.127-120_127-119delinsAG
NM_000187.4:c.550-120_550-119delinsAG MANE Select	NP_000178.2:n.550-120_550-119delinsAG