Canonical Allele Identifier: CA432421860
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146583dup , CM000665.2:g.10146583dup GRCh38
NC_000003.11:g.10188267dup , CM000665.1:g.10188267dup GRCh37
NC_000003.10:g.10163267dup NCBI36
NG_008212.3:g.9949dup , LRG_322:g.9949dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*87dup ENSP00000512434.1:n.*87dup
ENST00000696143.1:c.600-3204dup ENSP00000512435.1:n.600-3204dup
ENST00000696153.1:c.410dup ENSP00000512444.1:p.Pro138AlafsTer6
ENST00000256474.3:c.410dup MANE Select ENSP00000256474.3:p.Pro138AlafsTer6
ENST00000256474.2:c.410dup ENSP00000256474.2:p.Pro138AlafsTer6
ENST00000345392.2:c.341-3204dup ENSP00000344757.2:n.341-3204dup
ENST00000477538.1:n.546dup
NM_000551.3:c.410dup , LRG_322t1:c.410dup NP_000542.1:p.Pro138AlafsTer6
NM_198156.2:c.341-3204dup NP_937799.1:n.341-3204dup
XM_011534078.1:c.*87dup XP_011532380.1:n.*87dup
NM_001354723.1:c.*18-3204dup NP_001341652.1:n.*18-3204dup
NM_000551.4:c.410dup MANE Select NP_000542.1:p.Pro138AlafsTer6
NM_001354723.2:c.*18-3204dup NP_001341652.1:n.*18-3204dup
NM_198156.3:c.341-3204dup NP_937799.1:n.341-3204dup