Canonical Allele Identifier: CA897954489

Gene: HGD

Linked Data

• dbSNP Id: rs1338330961
• gnomAD v3: 3-120641812-AT-A
• gnomAD v4: 3-120641812-AT-A
• MyVariant Identifiers: chr3:g.120360660del (hg19) ; chr3:g.120641813del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641816del , CM000665.2:g.120641816del	GRCh38
NC_000003.11:g.120360663del , CM000665.1:g.120360663del	GRCh37
NC_000003.10:g.121843353del	NCBI36
NG_011957.1:g.45669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.775-120del MANE Select	ENSP00000283871.5:n.775-120del
ENST00000283871.9:c.775-120del	ENSP00000283871.5:n.775-120del
ENST00000475447.2:c.203-120del
ENST00000492108.5:c.181-120del	ENSP00000419838.1:n.181-120del
ENST00000494453.1:c.195-120del
NM_000187.3:c.775-120del	NP_000178.2:n.775-120del
XM_005247412.1:c.550-120del	XP_005247469.1:n.550-120del
XM_005247413.1:c.775-120del	XP_005247470.1:n.775-120del
XM_011512746.1:c.775-120del	XP_011511048.1:n.775-120del
XM_005247412.2:c.550-120del	XP_005247469.1:n.550-120del
XM_005247413.2:c.775-120del	XP_005247470.1:n.775-120del
XM_011512746.2:c.775-120del	XP_011511048.1:n.775-120del
XM_017006277.2:c.352-120del	XP_016861766.1:n.352-120del
NM_000187.4:c.775-120del MANE Select	NP_000178.2:n.775-120del