Canonical Allele Identifier: CA2667172652

Gene: HGD

Linked Data

• gnomAD v4: 3-120670452-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670455del , CM000665.2:g.120670455del	GRCh38
NC_000003.11:g.120389302del , CM000665.1:g.120389302del	GRCh37
NC_000003.10:g.121871992del	NCBI36
NG_011957.1:g.17029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.256del MANE Select	ENSP00000283871.5:p.Asp86MetfsTer25
ENST00000283871.9:c.256del	ENSP00000283871.5:p.Asp86MetfsTer25
ENST00000466528.5:n.282del
ENST00000476082.2:c.133del	ENSP00000419560.2:p.Asp45MetfsTer25
ENST00000485313.5:n.364del
ENST00000488183.5:n.514del
NM_000187.3:c.256del	NP_000178.2:p.Asp86MetfsTer25
XM_005247412.1:c.256del	XP_005247469.1:p.Asp86MetfsTer25
XM_005247413.1:c.256del	XP_005247470.1:p.Asp86MetfsTer25
XM_005247414.3:c.256del	XP_005247471.1:p.Asp86MetfsTer25
XM_011512746.1:c.256del	XP_011511048.1:p.Asp86MetfsTer25
XM_005247412.2:c.256del	XP_005247469.1:p.Asp86MetfsTer25
XM_005247413.2:c.256del	XP_005247470.1:p.Asp86MetfsTer25
XM_005247414.5:c.256del	XP_005247471.1:p.Asp86MetfsTer25
XM_011512746.2:c.256del	XP_011511048.1:p.Asp86MetfsTer25
XM_017006277.2:c.-168del	XP_016861766.1:n.-168del
NM_000187.4:c.256del MANE Select	NP_000178.2:p.Asp86MetfsTer25