Canonical Allele Identifier: CA040509
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 411994
dbSNP Id: rs1553619923

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146489_10146543dup , CM000665.2:g.10146489_10146543dup GRCh38
NC_000003.11:g.10188173_10188227dup , CM000665.1:g.10188173_10188227dup GRCh37
NC_000003.10:g.10163173_10163227dup NCBI36
NG_008212.3:g.9855_9909dup , LRG_322:g.9855_9909dup

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.341-25_370dup
ENST00000256474.2:c.341-25_370dup
ENST00000345392.2:c.341-3298_341-3244dup ENSP00000344757.2:p.=
ENST00000477538.1:n.477-25_506dup
NM_000551.3:c.341-25_370dup , LRG_322t1:c.341-25_370dup
NM_198156.2:c.341-3298_341-3244dup NP_937799.1:p.=
XM_011534078.1:c.*18-25_*47dup
NM_001354723.1:c.*18-3298_*18-3244dup NP_001341652.1:p.=
NM_000551.4:c.341-25_370dup
NM_001354723.2:c.*18-3298_*18-3244dup NP_001341652.1:p.=
NM_198156.3:c.341-3298_341-3244dup NP_937799.1:p.=