Canonical Allele Identifier: CA16040898
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 370893
ClinVar RCV Id: RCV000411427
dbSNP Id: rs1057516849
MyVariant Identifiers: chr3:g.120394668del (hg19) chr3:g.120675821del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120675821del , CM000665.2:g.120675821del GRCh38
NC_000003.11:g.120394668del , CM000665.1:g.120394668del GRCh37
NC_000003.10:g.121877358del NCBI36
NG_011957.1:g.11661del

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.58del MANE Select ENSP00000283871.5:p.Arg20AlafsTer?
ENST00000283871.9:c.58del ENSP00000283871.5:p.Arg20AlafsTer?
ENST00000466528.5:n.84del
ENST00000476082.2:c.24del ENSP00000419560.2:p.Ala9LeufsTer?
ENST00000480862.1:n.216del
ENST00000485313.5:n.166del
ENST00000488183.5:n.316del
NM_000187.3:c.58del NP_000178.2:p.Arg20AlafsTer?
XM_005247412.1:c.58del XP_005247469.1:p.Arg20AlafsTer?
XM_005247413.1:c.58del XP_005247470.1:p.Arg20AlafsTer?
XM_005247414.3:c.58del XP_005247471.1:p.Arg20AlafsTer?
XM_011512746.1:c.58del XP_011511048.1:p.Arg20AlafsTer?
XM_005247412.2:c.58del XP_005247469.1:p.Arg20AlafsTer?
XM_005247413.2:c.58del XP_005247470.1:p.Arg20AlafsTer?
XM_005247414.5:c.58del XP_005247471.1:p.Arg20AlafsTer?
XM_011512746.2:c.58del XP_011511048.1:p.Arg20AlafsTer?
XM_017006277.2:c.-366del XP_016861766.1:n.-366del
NM_000187.4:c.58del MANE Select NP_000178.2:p.Arg20AlafsTer?
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