Canonical Allele Identifier: CA2667171770

Gene: HGD

Linked Data

• gnomAD v4: 3-120646498-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646499del , CM000665.2:g.120646499del	GRCh38
NC_000003.11:g.120365346del , CM000665.1:g.120365346del	GRCh37
NC_000003.10:g.121848036del	NCBI36
NG_011957.1:g.40983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-133del MANE Select	ENSP00000283871.5:n.550-133del
ENST00000283871.9:c.550-133del	ENSP00000283871.5:n.550-133del
ENST00000475447.2:c.81-133del
ENST00000492108.5:c.180+474del	ENSP00000419838.1:n.180+474del
NM_000187.3:c.550-133del	NP_000178.2:n.550-133del
XM_005247412.1:c.549+474del	XP_005247469.1:n.549+474del
XM_005247413.1:c.550-133del	XP_005247470.1:n.550-133del
XM_005247414.3:c.550-133del	XP_005247471.1:n.550-133del
XM_011512746.1:c.550-133del	XP_011511048.1:n.550-133del
XM_005247412.2:c.549+474del	XP_005247469.1:n.549+474del
XM_005247413.2:c.550-133del	XP_005247470.1:n.550-133del
XM_005247414.5:c.550-133del	XP_005247471.1:n.550-133del
XM_011512746.2:c.550-133del	XP_011511048.1:n.550-133del
XM_017006277.2:c.127-133del	XP_016861766.1:n.127-133del
NM_000187.4:c.550-133del MANE Select	NP_000178.2:n.550-133del