Canonical Allele Identifier: CA645525081

Gene: VHL

Linked Data

• COSMIC: COSM18399

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149832_10149833insA , CM000665.2:g.10149832_10149833insA	GRCh38
NC_000003.11:g.10191516_10191517insA , CM000665.1:g.10191516_10191517insA	GRCh37
NC_000003.10:g.10166516_10166517insA	NCBI36
NG_008212.3:g.13198_13199insA , LRG_322:g.13198_13199insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*186_*187insA	ENSP00000512434.1:n.*186_*187insA
ENST00000696143.1:c.645_646insA	ENSP00000512435.1:n.645_646insA
ENST00000696153.1:c.620_621insA	ENSP00000512444.1:p.Lys208GlnfsTer3
ENST00000256474.3:c.509_510insA MANE Select	ENSP00000256474.3:p.Lys171GlnfsTer3
ENST00000256474.2:c.509_510insA	ENSP00000256474.2:p.Lys171GlnfsTer3
ENST00000345392.2:c.386_387insA	ENSP00000344757.2:p.Lys130GlnfsTer3
ENST00000477538.1:n.645_646insA
NM_000551.3:c.509_510insA , LRG_322t1:c.509_510insA	NP_000542.1:p.Lys171GlnfsTer3
NM_198156.2:c.386_387insA	NP_937799.1:p.Lys130GlnfsTer3
NM_001354723.1:c.*63_*64insA	NP_001341652.1:n.*63_*64insA
NM_000551.4:c.509_510insA MANE Select	NP_000542.1:p.Lys171GlnfsTer3
NM_001354723.2:c.*63_*64insA	NP_001341652.1:n.*63_*64insA
NM_198156.3:c.386_387insA	NP_937799.1:p.Lys130GlnfsTer3