Canonical Allele Identifier: CA645525036

Gene: VHL

Linked Data

• COSMIC: COSM36325

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149790dup , CM000665.2:g.10149790dup	GRCh38
NC_000003.11:g.10191474dup , CM000665.1:g.10191474dup	GRCh37
NC_000003.10:g.10166474dup	NCBI36
NG_008212.3:g.13156dup , LRG_322:g.13156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*144dup	ENSP00000512434.1:n.*144dup
ENST00000696143.1:c.603dup	ENSP00000512435.1:n.603dup
ENST00000696153.1:c.578dup	ENSP00000512444.1:p.Tyr193Ter
ENST00000256474.3:c.467dup MANE Select	ENSP00000256474.3:p.Tyr156Ter
ENST00000256474.2:c.467dup	ENSP00000256474.2:p.Tyr156Ter
ENST00000345392.2:c.344dup	ENSP00000344757.2:p.Tyr115Ter
ENST00000477538.1:n.603dup
NM_000551.3:c.467dup , LRG_322t1:c.467dup	NP_000542.1:p.Tyr156Ter
NM_198156.2:c.344dup	NP_937799.1:p.Tyr115Ter
NM_001354723.1:c.*21dup	NP_001341652.1:n.*21dup
NM_000551.4:c.467dup MANE Select	NP_000542.1:p.Tyr156Ter
NM_001354723.2:c.*21dup	NP_001341652.1:n.*21dup
NM_198156.3:c.344dup	NP_937799.1:p.Tyr115Ter