Canonical Allele Identifier: CA2667172657

Gene: HGD

Linked Data

• gnomAD v4: 3-120670521-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670521_120670522insG , CM000665.2:g.120670521_120670522insG	GRCh38
NC_000003.11:g.120389368_120389369insG , CM000665.1:g.120389368_120389369insG	GRCh37
NC_000003.10:g.121872058_121872059insG	NCBI36
NG_011957.1:g.16960_16961insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.187_188insC MANE Select	ENSP00000283871.5:p.Arg63ThrfsTer12
ENST00000283871.9:c.187_188insC	ENSP00000283871.5:p.Arg63ThrfsTer12
ENST00000466528.5:n.213_214insC
ENST00000476082.2:c.64_65insC	ENSP00000419560.2:p.Arg22ThrfsTer12
ENST00000485313.5:n.295_296insC
ENST00000488183.5:n.445_446insC
NM_000187.3:c.187_188insC	NP_000178.2:p.Arg63ThrfsTer12
XM_005247412.1:c.187_188insC	XP_005247469.1:p.Arg63ThrfsTer12
XM_005247413.1:c.187_188insC	XP_005247470.1:p.Arg63ThrfsTer12
XM_005247414.3:c.187_188insC	XP_005247471.1:p.Arg63ThrfsTer12
XM_011512746.1:c.187_188insC	XP_011511048.1:p.Arg63ThrfsTer12
XM_005247412.2:c.187_188insC	XP_005247469.1:p.Arg63ThrfsTer12
XM_005247413.2:c.187_188insC	XP_005247470.1:p.Arg63ThrfsTer12
XM_005247414.5:c.187_188insC	XP_005247471.1:p.Arg63ThrfsTer12
XM_011512746.2:c.187_188insC	XP_011511048.1:p.Arg63ThrfsTer12
XM_017006277.2:c.-237_-236insC	XP_016861766.1:n.-237_-236insC
NM_000187.4:c.187_188insC MANE Select	NP_000178.2:p.Arg63ThrfsTer12