Canonical Allele Identifier: CA16611276

Gene: VHL

Linked Data

• ClinVar Variation Id: 411979
• ClinVar RCV Id: RCV000474557 ; RCV000564069
• dbSNP Id: rs1553619976
• COSMIC: COSM17904 ; COSM1651672
• MyVariant Identifiers: chr3:g.10188279dupA (hg19) ; chr3:g.10146595dupA (hg38)
• PubMed: PMID:24727139

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146595dup , CM000665.2:g.10146595dup	GRCh38
NC_000003.11:g.10188279dup , CM000665.1:g.10188279dup	GRCh37
NC_000003.10:g.10163279dup	NCBI36
NG_008212.3:g.9961dup , LRG_322:g.9961dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*99dup	ENSP00000512434.1:n.*99dup
ENST00000696143.1:c.600-3192dup	ENSP00000512435.1:n.600-3192dup
ENST00000696153.1:c.422dup	ENSP00000512444.1:p.Asn141LysfsTer3
ENST00000256474.3:c.422dup MANE Select	ENSP00000256474.3:p.Asn141LysfsTer3
ENST00000256474.2:c.422dup	ENSP00000256474.2:p.Asn141LysfsTer3
ENST00000345392.2:c.341-3192dup	ENSP00000344757.2:n.341-3192dup
ENST00000477538.1:n.558dup
NM_000551.3:c.422dup , LRG_322t1:c.422dup	NP_000542.1:p.Asn141LysfsTer3
NM_198156.2:c.341-3192dup	NP_937799.1:n.341-3192dup
XM_011534078.1:c.*99dup	XP_011532380.1:n.*99dup
NM_001354723.1:c.*18-3192dup	NP_001341652.1:n.*18-3192dup
NM_000551.4:c.422dup MANE Select	NP_000542.1:p.Asn141LysfsTer3
NM_001354723.2:c.*18-3192dup	NP_001341652.1:n.*18-3192dup
NM_198156.3:c.341-3192dup	NP_937799.1:n.341-3192dup