Canonical Allele Identifier: CA16040891
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 370989
ClinVar RCV Id: RCV000411150
dbSNP Id: rs1057516921
MyVariant Identifiers: chr3:g.120369646del (hg19) chr3:g.120650799del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120650800del , CM000665.2:g.120650800del GRCh38
NC_000003.11:g.120369647del , CM000665.1:g.120369647del GRCh37
NC_000003.10:g.121852337del NCBI36
NG_011957.1:g.36683del

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.409del MANE Select ENSP00000283871.5:p.Leu137SerfsTer19
ENST00000283871.9:c.409del ENSP00000283871.5:p.Leu137SerfsTer19
ENST00000476082.2:c.286del ENSP00000419560.2:p.Leu96SerfsTer19
ENST00000485313.5:n.517del
ENST00000492108.5:c.40del ENSP00000419838.1:p.Leu14SerfsTer19
NM_000187.3:c.409del NP_000178.2:p.Leu137SerfsTer19
XM_005247412.1:c.409del XP_005247469.1:p.Leu137SerfsTer19
XM_005247413.1:c.409del XP_005247470.1:p.Leu137SerfsTer19
XM_005247414.3:c.409del XP_005247471.1:p.Leu137SerfsTer19
XM_011512746.1:c.409del XP_011511048.1:p.Leu137SerfsTer19
XM_005247412.2:c.409del XP_005247469.1:p.Leu137SerfsTer19
XM_005247413.2:c.409del XP_005247470.1:p.Leu137SerfsTer19
XM_005247414.5:c.409del XP_005247471.1:p.Leu137SerfsTer19
XM_011512746.2:c.409del XP_011511048.1:p.Leu137SerfsTer19
XM_017006277.2:c.-15del XP_016861766.1:n.-15del
NM_000187.4:c.409del MANE Select NP_000178.2:p.Leu137SerfsTer19
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