Canonical Allele Identifier: CA16611276
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 411979
dbSNP Id: rs1553619976

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146595dup , CM000665.2:g.10146595dup GRCh38
NC_000003.11:g.10188279dup , CM000665.1:g.10188279dup GRCh37
NC_000003.10:g.10163279dup NCBI36
NG_008212.3:g.9961dup , LRG_322:g.9961dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*99dup ENSP00000512434.1:n.*99dup
ENST00000696143.1:c.600-3192dup ENSP00000512435.1:n.600-3192dup
ENST00000696153.1:c.422dup ENSP00000512444.1:p.Asn141LysfsTer3
ENST00000256474.3:c.422dup MANE Select ENSP00000256474.3:p.Asn141LysfsTer3
ENST00000256474.2:c.422dup ENSP00000256474.2:p.Asn141LysfsTer3
ENST00000345392.2:c.341-3192dup ENSP00000344757.2:n.341-3192dup
ENST00000477538.1:n.558dup
NM_000551.3:c.422dup , LRG_322t1:c.422dup NP_000542.1:p.Asn141LysfsTer3
NM_198156.2:c.341-3192dup NP_937799.1:n.341-3192dup
XM_011534078.1:c.*99dup XP_011532380.1:n.*99dup
NM_001354723.1:c.*18-3192dup NP_001341652.1:n.*18-3192dup
NM_000551.4:c.422dup MANE Select NP_000542.1:p.Asn141LysfsTer3
NM_001354723.2:c.*18-3192dup NP_001341652.1:n.*18-3192dup
NM_198156.3:c.341-3192dup NP_937799.1:n.341-3192dup