Canonical Allele Identifier: CA2667172659

Gene: HGD

Linked Data

• gnomAD v4: 3-120670528-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670530del , CM000665.2:g.120670530del	GRCh38
NC_000003.11:g.120389377del , CM000665.1:g.120389377del	GRCh37
NC_000003.10:g.121872067del	NCBI36
NG_011957.1:g.16953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.180del MANE Select	ENSP00000283871.5:p.Trp60CysfsTer?
ENST00000283871.9:c.180del	ENSP00000283871.5:p.Trp60CysfsTer?
ENST00000466528.5:n.206del
ENST00000476082.2:c.57del	ENSP00000419560.2:p.Trp19CysfsTer?
ENST00000485313.5:n.288del
ENST00000488183.5:n.438del
NM_000187.3:c.180del	NP_000178.2:p.Trp60CysfsTer?
XM_005247412.1:c.180del	XP_005247469.1:p.Trp60CysfsTer?
XM_005247413.1:c.180del	XP_005247470.1:p.Trp60CysfsTer?
XM_005247414.3:c.180del	XP_005247471.1:p.Trp60CysfsTer?
XM_011512746.1:c.180del	XP_011511048.1:p.Trp60CysfsTer?
XM_005247412.2:c.180del	XP_005247469.1:p.Trp60CysfsTer?
XM_005247413.2:c.180del	XP_005247470.1:p.Trp60CysfsTer?
XM_005247414.5:c.180del	XP_005247471.1:p.Trp60CysfsTer?
XM_011512746.2:c.180del	XP_011511048.1:p.Trp60CysfsTer?
XM_017006277.2:c.-244del	XP_016861766.1:n.-244del
NM_000187.4:c.180del MANE Select	NP_000178.2:p.Trp60CysfsTer?