Canonical Allele Identifier: CA658795186
Gene: VHL HGNC NCBI

Linked Data

CIViC: CA658795186
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146605dup , CM000665.2:g.10146605dup GRCh38
NC_000003.11:g.10188289dup , CM000665.1:g.10188289dup GRCh37
NC_000003.10:g.10163289dup NCBI36
NG_008212.3:g.9971dup , LRG_322:g.9971dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*109dup ENSP00000512434.1:n.*109dup
ENST00000696143.1:c.600-3182dup ENSP00000512435.1:n.600-3182dup
ENST00000696153.1:c.432dup ENSP00000512444.1:p.Gln145ThrfsTer?
ENST00000256474.3:c.432dup MANE Select ENSP00000256474.3:p.Gln145ThrfsTer29
ENST00000256474.2:c.432dup ENSP00000256474.2:p.Gln145ThrfsTer29
ENST00000345392.2:c.341-3182dup ENSP00000344757.2:n.341-3182dup
ENST00000477538.1:n.568dup
NM_000551.3:c.432dup , LRG_322t1:c.432dup NP_000542.1:p.Gln145ThrfsTer29
NM_198156.2:c.341-3182dup NP_937799.1:n.341-3182dup
NM_001354723.1:c.*18-3182dup NP_001341652.1:n.*18-3182dup
NM_000551.4:c.432dup MANE Select NP_000542.1:p.Gln145ThrfsTer29
NM_001354723.2:c.*18-3182dup NP_001341652.1:n.*18-3182dup
NM_198156.3:c.341-3182dup NP_937799.1:n.341-3182dup
Search 100 bp 5'
Search 100 bp 3'