Canonical Allele Identifier: CA2560242

Gene: HGD

Linked Data

• ClinVar Variation Id: 2725437
• ClinVar RCV Id: RCV003501531
• dbSNP Id: rs774183886
• ExAC: 3:120369730 AAG / A
• gnomAD v2: 3-120369730-AAG-A
• gnomAD v3: 3-120650883-AAG-A
• gnomAD v4: 3-120650883-AAG-A
• MyVariant Identifiers: chr3:g.120369731_120369732del (hg19) ; chr3:g.120650884_120650885del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650886_120650887del , CM000665.2:g.120650886_120650887del	GRCh38
NC_000003.11:g.120369733_120369734del , CM000665.1:g.120369733_120369734del	GRCh37
NC_000003.10:g.121852423_121852424del	NCBI36
NG_011957.1:g.36597_36598del

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.343-20_343-19del MANE Select	ENSP00000283871.5:n.343-20_343-19del
ENST00000283871.9:c.343-20_343-19del	ENSP00000283871.5:n.343-20_343-19del
ENST00000476082.2:c.220-20_220-19del	ENSP00000419560.2:n.220-20_220-19del
ENST00000485313.5:n.451-20_451-19del
NM_000187.3:c.343-20_343-19del	NP_000178.2:n.343-20_343-19del
XM_005247412.1:c.343-20_343-19del	XP_005247469.1:n.343-20_343-19del
XM_005247413.1:c.343-20_343-19del	XP_005247470.1:n.343-20_343-19del
XM_005247414.3:c.343-20_343-19del	XP_005247471.1:n.343-20_343-19del
XM_011512746.1:c.343-20_343-19del	XP_011511048.1:n.343-20_343-19del
XM_005247412.2:c.343-20_343-19del	XP_005247469.1:n.343-20_343-19del
XM_005247413.2:c.343-20_343-19del	XP_005247470.1:n.343-20_343-19del
XM_005247414.5:c.343-20_343-19del	XP_005247471.1:n.343-20_343-19del
XM_011512746.2:c.343-20_343-19del	XP_011511048.1:n.343-20_343-19del
XM_017006277.2:c.-81-20_-81-19del	XP_016861766.1:n.-81-20_-81-19del
NM_000187.4:c.343-20_343-19del MANE Select	NP_000178.2:n.343-20_343-19del