Canonical Allele Identifier: CA3266346847
Community Standard Title: NC_000003.12:g.10141774_10142112dup
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141774_10142112dup , CM000665.2:g.10141774_10142112dup GRCh38
NC_000003.11:g.10183458_10183796dup , CM000665.1:g.10183458_10183796dup GRCh37
NC_000003.10:g.10158458_10158796dup NCBI36
NG_008212.3:g.5140_5478dup , LRG_322:g.5140_5478dup

Transcript Alleles

HGVS Amino-acid Change
NM_000551.3:c.-74_265dup , LRG_322t1:c.-74_265dup NP_000542.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArg...
NM_001354723.1:c.-74_265dup NP_001341652.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspPro...
NM_198156.2:c.-74_265dup NP_937799.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArg...
ENST00000256474.2:c.-74_265dup ENSP00000256474.2:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAsp...
XM_011534078.1:c.-74_265dup XP_011532380.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspPro...
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