Canonical Allele Identifier: CA1397090704

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633172_120633176delinsGGTGC , CM000665.2:g.120633172_120633176delinsGGTGC	GRCh38
NC_000003.11:g.120352019_120352023delinsGGTGC , CM000665.1:g.120352019_120352023delinsGGTGC	GRCh37
NC_000003.10:g.121834709_121834713delinsGGTGC	NCBI36
NG_011957.1:g.54306_54310delinsGCACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1159_1163delinsGCACC MANE Select	ENSP00000283871.5:p.Ala387=
ENST00000283871.9:c.1159_1163delinsGCACC	ENSP00000283871.5:p.Ala387=
ENST00000470321.1:n.499_503delinsGCACC
ENST00000492108.5:c.438_442delinsGCACC	ENSP00000419838.1:n.438_442delinsGCACC
NM_000187.3:c.1159_1163delinsGCACC	NP_000178.2:p.Ala387=
XM_005247412.1:c.934_938delinsGCACC	XP_005247469.1:p.Ala312=
XM_005247412.2:c.934_938delinsGCACC	XP_005247469.1:p.Ala312=
XM_017006277.2:c.736_740delinsGCACC	XP_016861766.1:p.Ala246=
NM_000187.4:c.1159_1163delinsGCACC MANE Select	NP_000178.2:p.Ala387=