Canonical Allele Identifier: CA16040888
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 371206
ClinVar RCV Id: RCV000410964
dbSNP Id: rs1057517089
MyVariant Identifiers: chr3:g.120357352del (hg19) chr3:g.120638505del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120638507del , CM000665.2:g.120638507del GRCh38
NC_000003.11:g.120357354del , CM000665.1:g.120357354del GRCh37
NC_000003.10:g.121840044del NCBI36
NG_011957.1:g.48977del

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.956del MANE Select ENSP00000283871.5:p.Pro319HisfsTer21
ENST00000283871.9:c.956del ENSP00000283871.5:p.Pro319HisfsTer21
ENST00000470321.1:n.296del
ENST00000475447.2:c.307+3084del
ENST00000492108.5:c.285+3084del ENSP00000419838.1:n.285+3084del
ENST00000494453.1:c.376del
NM_000187.3:c.956del NP_000178.2:p.Pro319HisfsTer21
XM_005247412.1:c.731del XP_005247469.1:p.Pro244HisfsTer21
XM_005247413.1:c.956del XP_005247470.1:p.Pro319HisfsTer19
XM_011512746.1:c.879+3084del XP_011511048.1:n.879+3084del
XM_005247412.2:c.731del XP_005247469.1:p.Pro244HisfsTer21
XM_005247413.2:c.956del XP_005247470.1:p.Pro319HisfsTer19
XM_011512746.2:c.879+3084del XP_011511048.1:n.879+3084del
XM_017006277.2:c.533del XP_016861766.1:p.Pro178HisfsTer21
NM_000187.4:c.956del MANE Select NP_000178.2:p.Pro319HisfsTer21
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