Canonical Allele Identifier: CA2667172656

Gene: HGD

Linked Data

• gnomAD v4: 3-120670497-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670500_120670501del , CM000665.2:g.120670500_120670501del	GRCh38
NC_000003.11:g.120389347_120389348del , CM000665.1:g.120389347_120389348del	GRCh37
NC_000003.10:g.121872037_121872038del	NCBI36
NG_011957.1:g.16983_16984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.210_211del MANE Select	ENSP00000283871.5:p.His70GlnfsTer4
ENST00000283871.9:c.210_211del	ENSP00000283871.5:p.His70GlnfsTer4
ENST00000466528.5:n.236_237del
ENST00000476082.2:c.87_88del	ENSP00000419560.2:p.His29GlnfsTer4
ENST00000485313.5:n.318_319del
ENST00000488183.5:n.468_469del
NM_000187.3:c.210_211del	NP_000178.2:p.His70GlnfsTer4
XM_005247412.1:c.210_211del	XP_005247469.1:p.His70GlnfsTer4
XM_005247413.1:c.210_211del	XP_005247470.1:p.His70GlnfsTer4
XM_005247414.3:c.210_211del	XP_005247471.1:p.His70GlnfsTer4
XM_011512746.1:c.210_211del	XP_011511048.1:p.His70GlnfsTer4
XM_005247412.2:c.210_211del	XP_005247469.1:p.His70GlnfsTer4
XM_005247413.2:c.210_211del	XP_005247470.1:p.His70GlnfsTer4
XM_005247414.5:c.210_211del	XP_005247471.1:p.His70GlnfsTer4
XM_011512746.2:c.210_211del	XP_011511048.1:p.His70GlnfsTer4
XM_017006277.2:c.-214_-213del	XP_016861766.1:n.-214_-213del
NM_000187.4:c.210_211del MANE Select	NP_000178.2:p.His70GlnfsTer4