Canonical Allele Identifier: CA645525080

Gene: VHL

Linked Data

• COSMIC: COSM14280

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149832_10149833dup , CM000665.2:g.10149832_10149833dup	GRCh38
NC_000003.11:g.10191516_10191517dup , CM000665.1:g.10191516_10191517dup	GRCh37
NC_000003.10:g.10166516_10166517dup	NCBI36
NG_008212.3:g.13198_13199dup , LRG_322:g.13198_13199dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*186_*187dup	ENSP00000512434.1:n.*186_*187dup
ENST00000696143.1:c.645_646dup	ENSP00000512435.1:n.645_646dup
ENST00000696153.1:c.620_621dup	ENSP00000512444.1:p.Lys208SerfsTer?
ENST00000256474.3:c.509_510dup MANE Select	ENSP00000256474.3:p.Lys171SerfsTer?
ENST00000256474.2:c.509_510dup	ENSP00000256474.2:p.Lys171SerfsTer?
ENST00000345392.2:c.386_387dup	ENSP00000344757.2:p.Lys130SerfsTer?
ENST00000477538.1:n.645_646dup
NM_000551.3:c.509_510dup , LRG_322t1:c.509_510dup	NP_000542.1:p.Lys171SerfsTer?
NM_198156.2:c.386_387dup	NP_937799.1:p.Lys130SerfsTer?
NM_001354723.1:c.*63_*64dup	NP_001341652.1:n.*63_*64dup
NM_000551.4:c.509_510dup MANE Select	NP_000542.1:p.Lys171SerfsTer?
NM_001354723.2:c.*63_*64dup	NP_001341652.1:n.*63_*64dup
NM_198156.3:c.386_387dup	NP_937799.1:p.Lys130SerfsTer?