Canonical Allele Identifier: CA3266346844
Community Standard Title: NC_000003.12:g.10141773_10142082dup
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141773_10142082dup , CM000665.2:g.10141773_10142082dup GRCh38
NC_000003.11:g.10183457_10183766dup , CM000665.1:g.10183457_10183766dup GRCh37
NC_000003.10:g.10158457_10158766dup NCBI36
NG_008212.3:g.5139_5448dup , LRG_322:g.5139_5448dup

Transcript Alleles

HGVS Amino-acid Change
NM_000551.3:c.-75_235dup , LRG_322t1:c.-75_235dup NP_000542.1:p.Arg79ProfsTer51
NM_001354723.1:c.-75_235dup NP_001341652.1:p.Arg79ProfsTer51
NM_198156.2:c.-75_235dup NP_937799.1:p.Arg79ProfsTer51
ENST00000256474.2:c.-75_235dup ENSP00000256474.2:p.Arg79ProfsTer51
XM_011534078.1:c.-75_235dup XP_011532380.1:p.Arg79ProfsTer51
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