Canonical Allele Identifier: CA916992877

Gene: HGD

Linked Data

• dbSNP Id: rs1576289083

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638458_120638459del , CM000665.2:g.120638458_120638459del	GRCh38
NC_000003.11:g.120357305_120357306del , CM000665.1:g.120357305_120357306del	GRCh37
NC_000003.10:g.121839995_121839996del	NCBI36
NG_011957.1:g.49023_49024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1002_1003del MANE Select	ENSP00000283871.5:p.Tyr334Ter
ENST00000283871.9:c.1002_1003del	ENSP00000283871.5:p.Tyr334Ter
ENST00000470321.1:n.342_343del
ENST00000475447.2:c.307+3130_307+3131del
ENST00000492108.5:c.285+3130_285+3131del	ENSP00000419838.1:n.285+3130_285+3131del
ENST00000494453.1:c.422_423del
NM_000187.3:c.1002_1003del	NP_000178.2:p.Tyr334Ter
XM_005247412.1:c.777_778del	XP_005247469.1:p.Tyr259Ter
XM_005247413.1:c.1002_1003del	XP_005247470.1:p.Tyr334Ter
XM_011512746.1:c.879+3130_879+3131del	XP_011511048.1:n.879+3130_879+3131del
XM_005247412.2:c.777_778del	XP_005247469.1:p.Tyr259Ter
XM_005247413.2:c.1002_1003del	XP_005247470.1:p.Tyr334Ter
XM_011512746.2:c.879+3130_879+3131del	XP_011511048.1:n.879+3130_879+3131del
XM_017006277.2:c.579_580del	XP_016861766.1:p.Tyr193Ter
NM_000187.4:c.1002_1003del MANE Select	NP_000178.2:p.Tyr334Ter