Canonical Allele Identifier: CA896161643
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1453228556

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10144762dup , CM000665.2:g.10144762dup GRCh38
NC_000003.11:g.10186446dup , CM000665.1:g.10186446dup GRCh37
NC_000003.10:g.10161446dup NCBI36
NG_008212.3:g.8128dup , LRG_322:g.8128dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*17+1741dup ENSP00000512434.1:n.*17+1741dup
ENST00000696143.1:c.599+1741dup ENSP00000512435.1:n.599+1741dup
ENST00000696153.1:c.341-1752dup ENSP00000512444.1:n.341-1752dup
ENST00000256474.3:c.341-1752dup MANE Select ENSP00000256474.3:n.341-1752dup
ENST00000256474.2:c.341-1752dup ENSP00000256474.2:n.341-1752dup
ENST00000345392.2:c.340+2575dup ENSP00000344757.2:n.340+2575dup
ENST00000477538.1:n.476+1741dup
NM_000551.3:c.341-1752dup , LRG_322t1:c.341-1752dup NP_000542.1:n.341-1752dup
NM_198156.2:c.340+2575dup NP_937799.1:n.340+2575dup
XM_011534078.1:c.*17+1741dup XP_011532380.1:n.*17+1741dup
NM_001354723.1:c.*17+1741dup NP_001341652.1:n.*17+1741dup
NM_000551.4:c.341-1752dup MANE Select NP_000542.1:n.341-1752dup
NM_001354723.2:c.*17+1741dup NP_001341652.1:n.*17+1741dup
NM_198156.3:c.340+2575dup NP_937799.1:n.340+2575dup