Canonical Allele Identifier: CA432423070

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191475_10191476insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149792dup , CM000665.2:g.10149792dup	GRCh38
NC_000003.11:g.10191476dup , CM000665.1:g.10191476dup	GRCh37
NC_000003.10:g.10166476dup	NCBI36
NG_008212.3:g.13158dup , LRG_322:g.13158dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*146dup	ENSP00000512434.1:n.*146dup
ENST00000696143.1:c.605dup	ENSP00000512435.1:n.605dup
ENST00000696153.1:c.580dup	ENSP00000512444.1:p.Thr194AsnfsTer17
ENST00000256474.3:c.469dup MANE Select	ENSP00000256474.3:p.Thr157AsnfsTer17
ENST00000256474.2:c.469dup	ENSP00000256474.2:p.Thr157AsnfsTer17
ENST00000345392.2:c.346dup	ENSP00000344757.2:p.Thr116AsnfsTer17
ENST00000477538.1:n.605dup
NM_000551.3:c.469dup , LRG_322t1:c.469dup	NP_000542.1:p.Thr157AsnfsTer17
NM_198156.2:c.346dup	NP_937799.1:p.Thr116AsnfsTer17
NM_001354723.1:c.*23dup	NP_001341652.1:n.*23dup
NM_000551.4:c.469dup MANE Select	NP_000542.1:p.Thr157AsnfsTer17
NM_001354723.2:c.*23dup	NP_001341652.1:n.*23dup
NM_198156.3:c.346dup	NP_937799.1:p.Thr116AsnfsTer17