Canonical Allele Identifier: CA1397093027

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638369_120638370delinsAC , CM000665.2:g.120638369_120638370delinsAC	GRCh38
NC_000003.11:g.120357216_120357217delinsAC , CM000665.1:g.120357216_120357217delinsAC	GRCh37
NC_000003.10:g.121839906_121839907delinsAC	NCBI36
NG_011957.1:g.49112_49113delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1006+85_1006+86delinsGT MANE Select	ENSP00000283871.5:n.1006+85_1006+86delinsGT
ENST00000283871.9:c.1006+85_1006+86delinsGT	ENSP00000283871.5:n.1006+85_1006+86delinsGT
ENST00000470321.1:n.346+85_346+86delinsGT
ENST00000475447.2:c.307+3219_307+3220delinsGT
ENST00000492108.5:c.285+3219_285+3220delinsGT	ENSP00000419838.1:n.285+3219_285+3220delinsGT
ENST00000494453.1:c.426+85_426+86delinsGT
NM_000187.3:c.1006+85_1006+86delinsGT	NP_000178.2:n.1006+85_1006+86delinsGT
XM_005247412.1:c.781+85_781+86delinsGT	XP_005247469.1:n.781+85_781+86delinsGT
XM_005247413.1:c.1006+85_1006+86delinsGT	XP_005247470.1:n.1006+85_1006+86delinsGT
XM_011512746.1:c.879+3219_879+3220delinsGT	XP_011511048.1:n.879+3219_879+3220delinsGT
XM_005247412.2:c.781+85_781+86delinsGT	XP_005247469.1:n.781+85_781+86delinsGT
XM_005247413.2:c.1006+85_1006+86delinsGT	XP_005247470.1:n.1006+85_1006+86delinsGT
XM_011512746.2:c.879+3219_879+3220delinsGT	XP_011511048.1:n.879+3219_879+3220delinsGT
XM_017006277.2:c.583+85_583+86delinsGT	XP_016861766.1:n.583+85_583+86delinsGT
NM_000187.4:c.1006+85_1006+86delinsGT MANE Select	NP_000178.2:n.1006+85_1006+86delinsGT