Canonical Allele Identifier: CA432421909

Gene: VHL

Linked Data

• COSMIC: COSM17853
• MyVariant Identifiers: chr3:g.10188308_10188309insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146624dup , CM000665.2:g.10146624dup	GRCh38
NC_000003.11:g.10188308dup , CM000665.1:g.10188308dup	GRCh37
NC_000003.10:g.10163308dup	NCBI36
NG_008212.3:g.9990dup , LRG_322:g.9990dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*128dup	ENSP00000512434.1:n.*128dup
ENST00000696143.1:c.600-3163dup	ENSP00000512435.1:n.600-3163dup
ENST00000696153.1:c.451dup	ENSP00000512444.1:p.Ile151AsnfsTer?
ENST00000256474.3:c.451dup MANE Select	ENSP00000256474.3:p.Ile151AsnfsTer23
ENST00000256474.2:c.451dup	ENSP00000256474.2:p.Ile151AsnfsTer23
ENST00000345392.2:c.341-3163dup	ENSP00000344757.2:n.341-3163dup
ENST00000477538.1:n.587dup
NM_000551.3:c.451dup , LRG_322t1:c.451dup	NP_000542.1:p.Ile151AsnfsTer23
NM_198156.2:c.341-3163dup	NP_937799.1:n.341-3163dup
NM_001354723.1:c.*18-3163dup	NP_001341652.1:n.*18-3163dup
NM_000551.4:c.451dup MANE Select	NP_000542.1:p.Ile151AsnfsTer23
NM_001354723.2:c.*18-3163dup	NP_001341652.1:n.*18-3163dup
NM_198156.3:c.341-3163dup	NP_937799.1:n.341-3163dup