Canonical Allele Identifier: CA1397093067

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638457_120638459delinsTGG , CM000665.2:g.120638457_120638459delinsTGG	GRCh38
NC_000003.11:g.120357304_120357306delinsTGG , CM000665.1:g.120357304_120357306delinsTGG	GRCh37
NC_000003.10:g.121839994_121839996delinsTGG	NCBI36
NG_011957.1:g.49023_49025delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1002_1004delinsCCA MANE Select	ENSP00000283871.5:p.Tyr334=
ENST00000283871.9:c.1002_1004delinsCCA	ENSP00000283871.5:p.Tyr334=
ENST00000470321.1:n.342_344delinsCCA
ENST00000475447.2:c.307+3130_307+3132delinsCCA
ENST00000492108.5:c.285+3130_285+3132delinsCCA	ENSP00000419838.1:n.285+3130_285+3132delinsCCA
ENST00000494453.1:c.422_424delinsCCA
NM_000187.3:c.1002_1004delinsCCA	NP_000178.2:p.Tyr334=
XM_005247412.1:c.777_779delinsCCA	XP_005247469.1:p.Tyr259=
XM_005247413.1:c.1002_1004delinsCCA	XP_005247470.1:p.Tyr334=
XM_011512746.1:c.879+3130_879+3132delinsCCA	XP_011511048.1:n.879+3130_879+3132delinsCCA
XM_005247412.2:c.777_779delinsCCA	XP_005247469.1:p.Tyr259=
XM_005247413.2:c.1002_1004delinsCCA	XP_005247470.1:p.Tyr334=
XM_011512746.2:c.879+3130_879+3132delinsCCA	XP_011511048.1:n.879+3130_879+3132delinsCCA
XM_017006277.2:c.579_581delinsCCA	XP_016861766.1:p.Tyr193=
NM_000187.4:c.1002_1004delinsCCA MANE Select	NP_000178.2:p.Tyr334=