Canonical Allele Identifier: CA432423467

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191536_10191537insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149853dup , CM000665.2:g.10149853dup	GRCh38
NC_000003.11:g.10191537dup , CM000665.1:g.10191537dup	GRCh37
NC_000003.10:g.10166537dup	NCBI36
NG_008212.3:g.13219dup , LRG_322:g.13219dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*207dup	ENSP00000512434.1:n.*207dup
ENST00000696143.1:c.666dup	ENSP00000512435.1:n.666dup
ENST00000696153.1:c.641dup	ENSP00000512444.1:p.Leu215ThrfsTer?
ENST00000256474.3:c.530dup MANE Select	ENSP00000256474.3:p.Leu178ThrfsTer?
ENST00000256474.2:c.530dup	ENSP00000256474.2:p.Leu178ThrfsTer?
ENST00000345392.2:c.407dup	ENSP00000344757.2:p.Leu137ThrfsTer?
ENST00000477538.1:n.666dup
NM_000551.3:c.530dup , LRG_322t1:c.530dup	NP_000542.1:p.Leu178ThrfsTer?
NM_198156.2:c.407dup	NP_937799.1:p.Leu137ThrfsTer?
NM_001354723.1:c.*84dup	NP_001341652.1:n.*84dup
NM_000551.4:c.530dup MANE Select	NP_000542.1:p.Leu178ThrfsTer?
NM_001354723.2:c.*84dup	NP_001341652.1:n.*84dup
NM_198156.3:c.407dup	NP_937799.1:p.Leu137ThrfsTer?