Canonical Allele Identifier: CA16040885
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 370890
ClinVar RCV Id: RCV000411251
dbSNP Id: rs1057516847
MyVariant Identifiers: chr3:g.120352118dupC (hg19) chr3:g.120352117_120352118insC (hg19) chr3:g.120633271dupC (hg38) chr3:g.120633270_120633271insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633272dup , CM000665.2:g.120633272dup GRCh38
NC_000003.11:g.120352119dup , CM000665.1:g.120352119dup GRCh37
NC_000003.10:g.121834809dup NCBI36
NG_011957.1:g.54211dup

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1064dup MANE Select ENSP00000283871.5:p.Gly356TrpfsTer19
ENST00000283871.9:c.1064dup ENSP00000283871.5:p.Gly356TrpfsTer19
ENST00000470321.1:n.404dup
ENST00000492108.5:c.343dup ENSP00000419838.1:n.343dup
NM_000187.3:c.1064dup NP_000178.2:p.Gly356TrpfsTer19
XM_005247412.1:c.839dup XP_005247469.1:p.Gly281TrpfsTer19
XM_005247412.2:c.839dup XP_005247469.1:p.Gly281TrpfsTer19
XM_017006277.2:c.641dup XP_016861766.1:p.Gly215TrpfsTer19
NM_000187.4:c.1064dup MANE Select NP_000178.2:p.Gly356TrpfsTer19
Search 100 bp 5'
Search 100 bp 3'