Canonical Allele Identifier: CA1397096676

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646549_120646550delinsAG , CM000665.2:g.120646549_120646550delinsAG	GRCh38
NC_000003.11:g.120365396_120365397delinsAG , CM000665.1:g.120365396_120365397delinsAG	GRCh37
NC_000003.10:g.121848086_121848087delinsAG	NCBI36
NG_011957.1:g.40932_40933delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-184_550-183delinsCT MANE Select	ENSP00000283871.5:n.550-184_550-183delinsCT
ENST00000283871.9:c.550-184_550-183delinsCT	ENSP00000283871.5:n.550-184_550-183delinsCT
ENST00000475447.2:c.81-184_81-183delinsCT
ENST00000492108.5:c.180+423_180+424delinsCT	ENSP00000419838.1:n.180+423_180+424delinsCT
NM_000187.3:c.550-184_550-183delinsCT	NP_000178.2:n.550-184_550-183delinsCT
XM_005247412.1:c.549+423_549+424delinsCT	XP_005247469.1:n.549+423_549+424delinsCT
XM_005247413.1:c.550-184_550-183delinsCT	XP_005247470.1:n.550-184_550-183delinsCT
XM_005247414.3:c.550-184_550-183delinsCT	XP_005247471.1:n.550-184_550-183delinsCT
XM_011512746.1:c.550-184_550-183delinsCT	XP_011511048.1:n.550-184_550-183delinsCT
XM_005247412.2:c.549+423_549+424delinsCT	XP_005247469.1:n.549+423_549+424delinsCT
XM_005247413.2:c.550-184_550-183delinsCT	XP_005247470.1:n.550-184_550-183delinsCT
XM_005247414.5:c.550-184_550-183delinsCT	XP_005247471.1:n.550-184_550-183delinsCT
XM_011512746.2:c.550-184_550-183delinsCT	XP_011511048.1:n.550-184_550-183delinsCT
XM_017006277.2:c.127-184_127-183delinsCT	XP_016861766.1:n.127-184_127-183delinsCT
NM_000187.4:c.550-184_550-183delinsCT MANE Select	NP_000178.2:n.550-184_550-183delinsCT