Canonical Allele Identifier: CA2667171257

Gene: HGD

Linked Data

• gnomAD v4: 3-120641593-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641595del , CM000665.2:g.120641595del	GRCh38
NC_000003.11:g.120360442del , CM000665.1:g.120360442del	GRCh37
NC_000003.10:g.121843132del	NCBI36
NG_011957.1:g.45888del

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.874del MANE Select	ENSP00000283871.5:p.His292MetfsTer10
ENST00000283871.9:c.874del	ENSP00000283871.5:p.His292MetfsTer10
ENST00000470321.1:n.214del
ENST00000475447.2:c.302del
ENST00000492108.5:c.280del	ENSP00000419838.1:p.His94MetfsTer7
ENST00000494453.1:c.294del
NM_000187.3:c.874del	NP_000178.2:p.His292MetfsTer10
XM_005247412.1:c.649del	XP_005247469.1:p.His217MetfsTer10
XM_005247413.1:c.874del	XP_005247470.1:p.His292MetfsTer10
XM_011512746.1:c.874del	XP_011511048.1:p.His292MetfsTer24
XM_005247412.2:c.649del	XP_005247469.1:p.His217MetfsTer10
XM_005247413.2:c.874del	XP_005247470.1:p.His292MetfsTer10
XM_011512746.2:c.874del	XP_011511048.1:p.His292MetfsTer24
XM_017006277.2:c.451del	XP_016861766.1:p.His151MetfsTer10
NM_000187.4:c.874del MANE Select	NP_000178.2:p.His292MetfsTer10