Canonical Allele Identifier: CA3266346841
Community Standard Title: NC_000003.12:g.10141776_10142091dup
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141776_10142091dup , CM000665.2:g.10141776_10142091dup GRCh38
NC_000003.11:g.10183460_10183775dup , CM000665.1:g.10183460_10183775dup GRCh37
NC_000003.10:g.10158460_10158775dup NCBI36
NG_008212.3:g.5142_5457dup , LRG_322:g.5142_5457dup

Transcript Alleles

HGVS Amino-acid Change
NM_000551.3:c.-72_244dup , LRG_322t1:c.-72_244dup NP_000542.1:p.Arg82HisfsTer50
NM_001354723.1:c.-72_244dup NP_001341652.1:p.Arg82HisfsTer50
NM_198156.2:c.-72_244dup NP_937799.1:p.Arg82HisfsTer50
ENST00000256474.2:c.-72_244dup ENSP00000256474.2:p.Arg82HisfsTer50
XM_011534078.1:c.-72_244dup XP_011532380.1:p.Arg82HisfsTer50
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