Canonical Allele Identifier: CA2582342875

Gene: HGD

Linked Data

• ClinVar Variation Id: 2584693
• ClinVar RCV Id: RCV003336661

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120640300_120643612del , CM000665.2:g.120640300_120643612del	GRCh38
NC_000003.11:g.120359147_120362459del , CM000665.1:g.120359147_120362459del	GRCh37
NC_000003.10:g.121841837_121845149del	NCBI36
NG_011957.1:g.43874_47186del

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.774+711_879+1293del
ENST00000283871.9:c.774+711_879+1293del
ENST00000475447.2:c.202+990_307+1293del
ENST00000492108.5:c.181-1915_285+1293del
ENST00000494453.1:c.194+711_299+1293del
NM_000187.3:c.774+711_879+1293del
XM_005247412.1:c.550-1915_654+1293del
XM_005247413.1:c.774+711_879+1293del
XM_011512746.1:c.774+711_879+1293del
XM_005247412.2:c.550-1915_654+1293del
XM_005247413.2:c.774+711_879+1293del
XM_011512746.2:c.774+711_879+1293del
XM_017006277.2:c.351+711_456+1293del
NM_000187.4:c.774+711_879+1293del