Canonical Allele Identifier: CA2667171075

Gene: HGD

Linked Data

• gnomAD v4: 3-120638638-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638644_120638645del , CM000665.2:g.120638644_120638645del	GRCh38
NC_000003.11:g.120357491_120357492del , CM000665.1:g.120357491_120357492del	GRCh37
NC_000003.10:g.121840181_121840182del	NCBI36
NG_011957.1:g.48842_48843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.880-59_880-58del MANE Select	ENSP00000283871.5:n.880-59_880-58del
ENST00000283871.9:c.880-59_880-58del	ENSP00000283871.5:n.880-59_880-58del
ENST00000470321.1:n.220-59_220-58del
ENST00000475447.2:c.307+2949_307+2950del
ENST00000492108.5:c.285+2949_285+2950del	ENSP00000419838.1:n.285+2949_285+2950del
ENST00000494453.1:c.300-59_300-58del
NM_000187.3:c.880-59_880-58del	NP_000178.2:n.880-59_880-58del
XM_005247412.1:c.655-59_655-58del	XP_005247469.1:n.655-59_655-58del
XM_005247413.1:c.880-59_880-58del	XP_005247470.1:n.880-59_880-58del
XM_011512746.1:c.879+2949_879+2950del	XP_011511048.1:n.879+2949_879+2950del
XM_005247412.2:c.655-59_655-58del	XP_005247469.1:n.655-59_655-58del
XM_005247413.2:c.880-59_880-58del	XP_005247470.1:n.880-59_880-58del
XM_011512746.2:c.879+2949_879+2950del	XP_011511048.1:n.879+2949_879+2950del
XM_017006277.2:c.457-59_457-58del	XP_016861766.1:n.457-59_457-58del
NM_000187.4:c.880-59_880-58del MANE Select	NP_000178.2:n.880-59_880-58del