Canonical Allele Identifier: CA16040892
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 370253
ClinVar RCV Id: RCV000409303
dbSNP Id: rs1057516352
MyVariant Identifiers: chr3:g.120369665del (hg19) chr3:g.120650818del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120650820del , CM000665.2:g.120650820del GRCh38
NC_000003.11:g.120369667del , CM000665.1:g.120369667del GRCh37
NC_000003.10:g.121852357del NCBI36
NG_011957.1:g.36664del

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.390del MANE Select ENSP00000283871.5:p.Ala132LeufsTer24
ENST00000283871.9:c.390del ENSP00000283871.5:p.Ala132LeufsTer24
ENST00000476082.2:c.267del ENSP00000419560.2:p.Ala91LeufsTer24
ENST00000485313.5:n.498del
ENST00000492108.5:c.21del ENSP00000419838.1:p.Ala9LeufsTer24
NM_000187.3:c.390del NP_000178.2:p.Ala132LeufsTer24
XM_005247412.1:c.390del XP_005247469.1:p.Ala132LeufsTer24
XM_005247413.1:c.390del XP_005247470.1:p.Ala132LeufsTer24
XM_005247414.3:c.390del XP_005247471.1:p.Ala132LeufsTer24
XM_011512746.1:c.390del XP_011511048.1:p.Ala132LeufsTer24
XM_005247412.2:c.390del XP_005247469.1:p.Ala132LeufsTer24
XM_005247413.2:c.390del XP_005247470.1:p.Ala132LeufsTer24
XM_005247414.5:c.390del XP_005247471.1:p.Ala132LeufsTer24
XM_011512746.2:c.390del XP_011511048.1:p.Ala132LeufsTer24
XM_017006277.2:c.-34del XP_016861766.1:n.-34del
NM_000187.4:c.390del MANE Select NP_000178.2:p.Ala132LeufsTer24
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