Canonical Allele Identifier: CA1345064539
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696109136

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141806_10141814dup , CM000665.2:g.10141806_10141814dup GRCh38
NC_000003.11:g.10183490_10183498dup , CM000665.1:g.10183490_10183498dup GRCh37
NC_000003.10:g.10158490_10158498dup NCBI36
NG_008212.3:g.5172_5180dup , LRG_322:g.5172_5180dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.-42_-34dup ENSP00000512434.1:n.-42_-34dup
ENST00000696153.1:c.-42_-34dup ENSP00000512444.1:n.-42_-34dup
ENST00000256474.3:c.-42_-34dup MANE Select ENSP00000256474.3:n.-42_-34dup
ENST00000256474.2:c.-42_-34dup ENSP00000256474.2:n.-42_-34dup
ENST00000345392.2:c.-42_-34dup ENSP00000344757.2:n.-42_-34dup
NM_000551.3:c.-42_-34dup , LRG_322t1:c.-42_-34dup NP_000542.1:n.-42_-34dup
NM_198156.2:c.-42_-34dup NP_937799.1:n.-42_-34dup
XM_011534078.1:c.-42_-34dup XP_011532380.1:n.-42_-34dup
NM_001354723.1:c.-42_-34dup NP_001341652.1:n.-42_-34dup
NM_000551.4:c.-42_-34dup MANE Select NP_000542.1:n.-42_-34dup
NM_001354723.2:c.-42_-34dup NP_001341652.1:n.-42_-34dup
NM_198156.3:c.-42_-34dup NP_937799.1:n.-42_-34dup