Canonical Allele Identifier: CA1397090707

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633174_120633178delinsTGCCA , CM000665.2:g.120633174_120633178delinsTGCCA	GRCh38
NC_000003.11:g.120352021_120352025delinsTGCCA , CM000665.1:g.120352021_120352025delinsTGCCA	GRCh37
NC_000003.10:g.121834711_121834715delinsTGCCA	NCBI36
NG_011957.1:g.54304_54308delinsTGGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1157_1161delinsTGGCA MANE Select	ENSP00000283871.5:p.Leu386=
ENST00000283871.9:c.1157_1161delinsTGGCA	ENSP00000283871.5:p.Leu386=
ENST00000470321.1:n.497_501delinsTGGCA
ENST00000492108.5:c.436_440delinsTGGCA	ENSP00000419838.1:n.436_440delinsTGGCA
NM_000187.3:c.1157_1161delinsTGGCA	NP_000178.2:p.Leu386=
XM_005247412.1:c.932_936delinsTGGCA	XP_005247469.1:p.Leu311=
XM_005247412.2:c.932_936delinsTGGCA	XP_005247469.1:p.Leu311=
XM_017006277.2:c.734_738delinsTGGCA	XP_016861766.1:p.Leu245=
NM_000187.4:c.1157_1161delinsTGGCA MANE Select	NP_000178.2:p.Leu386=