Canonical Allele Identifier: CA897917961

Gene: HGD

Linked Data

• dbSNP Id: rs1414776809
• gnomAD v3: 3-120646541-TA-T
• gnomAD v4: 3-120646541-TA-T
• MyVariant Identifiers: chr3:g.120365389del (hg19) ; chr3:g.120646542del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646545del , CM000665.2:g.120646545del	GRCh38
NC_000003.11:g.120365392del , CM000665.1:g.120365392del	GRCh37
NC_000003.10:g.121848082del	NCBI36
NG_011957.1:g.40940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-176del MANE Select	ENSP00000283871.5:n.550-176del
ENST00000283871.9:c.550-176del	ENSP00000283871.5:n.550-176del
ENST00000475447.2:c.81-176del
ENST00000492108.5:c.180+431del	ENSP00000419838.1:n.180+431del
NM_000187.3:c.550-176del	NP_000178.2:n.550-176del
XM_005247412.1:c.549+431del	XP_005247469.1:n.549+431del
XM_005247413.1:c.550-176del	XP_005247470.1:n.550-176del
XM_005247414.3:c.550-176del	XP_005247471.1:n.550-176del
XM_011512746.1:c.550-176del	XP_011511048.1:n.550-176del
XM_005247412.2:c.549+431del	XP_005247469.1:n.549+431del
XM_005247413.2:c.550-176del	XP_005247470.1:n.550-176del
XM_005247414.5:c.550-176del	XP_005247471.1:n.550-176del
XM_011512746.2:c.550-176del	XP_011511048.1:n.550-176del
XM_017006277.2:c.127-176del	XP_016861766.1:n.127-176del
NM_000187.4:c.550-176del MANE Select	NP_000178.2:n.550-176del