Canonical Allele Identifier: CA897933919

Gene: HGD

Linked Data

• dbSNP Id: rs1399798349
• gnomAD v3: 3-120675048-CACCA-C
• gnomAD v4: 3-120675048-CACCA-C
• MyVariant Identifiers: chr3:g.120393896_120393899del (hg19) ; chr3:g.120675049_120675052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675055_120675058del , CM000665.2:g.120675055_120675058del	GRCh38
NC_000003.11:g.120393902_120393905del , CM000665.1:g.120393902_120393905del	GRCh37
NC_000003.10:g.121876592_121876595del	NCBI36
NG_011957.1:g.12430_12433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-63_88-60del MANE Select	ENSP00000283871.5:n.88-63_88-60del
ENST00000283871.9:c.88-63_88-60del	ENSP00000283871.5:n.88-63_88-60del
ENST00000466528.5:n.114-63_114-60del
ENST00000476082.2:c.53+740_53+743del	ENSP00000419560.2:n.53+740_53+743del
ENST00000480862.1:n.246-63_246-60del
ENST00000485313.5:n.196-63_196-60del
ENST00000488183.5:n.346-63_346-60del
NM_000187.3:c.88-63_88-60del	NP_000178.2:n.88-63_88-60del
XM_005247412.1:c.88-63_88-60del	XP_005247469.1:n.88-63_88-60del
XM_005247413.1:c.88-63_88-60del	XP_005247470.1:n.88-63_88-60del
XM_005247414.3:c.88-63_88-60del	XP_005247471.1:n.88-63_88-60del
XM_011512746.1:c.88-63_88-60del	XP_011511048.1:n.88-63_88-60del
XM_005247412.2:c.88-63_88-60del	XP_005247469.1:n.88-63_88-60del
XM_005247413.2:c.88-63_88-60del	XP_005247470.1:n.88-63_88-60del
XM_005247414.5:c.88-63_88-60del	XP_005247471.1:n.88-63_88-60del
XM_011512746.2:c.88-63_88-60del	XP_011511048.1:n.88-63_88-60del
XM_017006277.2:c.-336-63_-336-60del	XP_016861766.1:n.-336-63_-336-60del
NM_000187.4:c.88-63_88-60del MANE Select	NP_000178.2:n.88-63_88-60del