Canonical Allele Identifier: CA3266346836
Community Standard Title: NC_000003.12:g.10141774_10142117dup
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141774_10142117dup , CM000665.2:g.10141774_10142117dup GRCh38
NC_000003.11:g.10183458_10183801dup , CM000665.1:g.10183458_10183801dup GRCh37
NC_000003.10:g.10158458_10158801dup NCBI36
NG_008212.3:g.5140_5483dup , LRG_322:g.5140_5483dup

Transcript Alleles

HGVS Amino-acid Change
NM_000551.3:c.-74_270dup , LRG_322t1:c.-74_270dup NP_000542.1:p.Phe91AlafsTer38
NM_001354723.1:c.-74_270dup NP_001341652.1:p.Phe91AlafsTer38
NM_198156.2:c.-74_270dup NP_937799.1:p.Phe91AlafsTer38
ENST00000256474.2:c.-74_270dup ENSP00000256474.2:p.Phe91AlafsTer38
XM_011534078.1:c.-74_270dup XP_011532380.1:p.Phe91AlafsTer38
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