Canonical Allele Identifier: CA16040894
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 370977
ClinVar RCV Id: RCV000411315
dbSNP Id: rs1057516911
MyVariant Identifiers: chr3:g.120369709del (hg19) chr3:g.120650862del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120650863del , CM000665.2:g.120650863del GRCh38
NC_000003.11:g.120369710del , CM000665.1:g.120369710del GRCh37
NC_000003.10:g.121852400del NCBI36
NG_011957.1:g.36620del

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.346del MANE Select ENSP00000283871.5:p.Leu116CysfsTer10
ENST00000283871.9:c.346del ENSP00000283871.5:p.Leu116CysfsTer10
ENST00000476082.2:c.223del ENSP00000419560.2:p.Leu75CysfsTer10
ENST00000485313.5:n.454del
NM_000187.3:c.346del NP_000178.2:p.Leu116CysfsTer10
XM_005247412.1:c.346del XP_005247469.1:p.Leu116CysfsTer10
XM_005247413.1:c.346del XP_005247470.1:p.Leu116CysfsTer10
XM_005247414.3:c.346del XP_005247471.1:p.Leu116CysfsTer10
XM_011512746.1:c.346del XP_011511048.1:p.Leu116CysfsTer10
XM_005247412.2:c.346del XP_005247469.1:p.Leu116CysfsTer10
XM_005247413.2:c.346del XP_005247470.1:p.Leu116CysfsTer10
XM_005247414.5:c.346del XP_005247471.1:p.Leu116CysfsTer10
XM_011512746.2:c.346del XP_011511048.1:p.Leu116CysfsTer10
XM_017006277.2:c.-78del XP_016861766.1:n.-78del
NM_000187.4:c.346del MANE Select NP_000178.2:p.Leu116CysfsTer10
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