Canonical Allele Identifier: CA645525094

Gene: VHL

Linked Data

• COSMIC: COSM3734683

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149844_10149845dup , CM000665.2:g.10149844_10149845dup	GRCh38
NC_000003.11:g.10191528_10191529dup , CM000665.1:g.10191528_10191529dup	GRCh37
NC_000003.10:g.10166528_10166529dup	NCBI36
NG_008212.3:g.13210_13211dup , LRG_322:g.13210_13211dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*198_*199dup	ENSP00000512434.1:n.*198_*199dup
ENST00000696143.1:c.657_658dup	ENSP00000512435.1:n.657_658dup
ENST00000696153.1:c.632_633dup	ENSP00000512444.1:p.Tyr212IlefsTer28
ENST00000256474.3:c.521_522dup MANE Select	ENSP00000256474.3:p.Tyr175IlefsTer28
ENST00000256474.2:c.521_522dup	ENSP00000256474.2:p.Tyr175IlefsTer28
ENST00000345392.2:c.398_399dup	ENSP00000344757.2:p.Tyr134IlefsTer28
ENST00000477538.1:n.657_658dup
NM_000551.3:c.521_522dup , LRG_322t1:c.521_522dup	NP_000542.1:p.Tyr175IlefsTer28
NM_198156.2:c.398_399dup	NP_937799.1:p.Tyr134IlefsTer28
NM_001354723.1:c.*75_*76dup	NP_001341652.1:n.*75_*76dup
NM_000551.4:c.521_522dup MANE Select	NP_000542.1:p.Tyr175IlefsTer28
NM_001354723.2:c.*75_*76dup	NP_001341652.1:n.*75_*76dup
NM_198156.3:c.398_399dup	NP_937799.1:p.Tyr134IlefsTer28