Canonical Allele Identifier: CA16621931
Gene: VHL HGNC NCBI

Linked Data

CIViC: CA16621931
PCER: P-CER:CA16621931/193300
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146548dup , CM000665.2:g.10146548dup GRCh38
NC_000003.11:g.10188232dup , CM000665.1:g.10188232dup GRCh37
NC_000003.10:g.10163232dup NCBI36
NG_008212.3:g.9914dup , LRG_322:g.9914dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*52dup ENSP00000512434.1:n.*52dup
ENST00000696143.1:c.600-3239dup ENSP00000512435.1:n.600-3239dup
ENST00000696153.1:c.375dup ENSP00000512444.1:p.Asp126ArgfsTer6
ENST00000256474.3:c.375dup MANE Select ENSP00000256474.3:p.Asp126ArgfsTer6
ENST00000256474.2:c.375dup ENSP00000256474.2:p.Asp126ArgfsTer6
ENST00000345392.2:c.341-3239dup ENSP00000344757.2:n.341-3239dup
ENST00000477538.1:n.511dup
NM_000551.3:c.375dup , LRG_322t1:c.375dup NP_000542.1:p.Asp126ArgfsTer6
NM_198156.2:c.341-3239dup NP_937799.1:n.341-3239dup
XM_011534078.1:c.*52dup XP_011532380.1:n.*52dup
NM_001354723.1:c.*18-3239dup NP_001341652.1:n.*18-3239dup
NM_000551.4:c.375dup MANE Select NP_000542.1:p.Asp126ArgfsTer6
NM_001354723.2:c.*18-3239dup NP_001341652.1:n.*18-3239dup
NM_198156.3:c.341-3239dup NP_937799.1:n.341-3239dup
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