Canonical Allele Identifier: CA432423869

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191610_10191611insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149926_10149927insT , CM000665.2:g.10149926_10149927insT	GRCh38
NC_000003.11:g.10191610_10191611insT , CM000665.1:g.10191610_10191611insT	GRCh37
NC_000003.10:g.10166610_10166611insT	NCBI36
NG_008212.3:g.13292_13293insT , LRG_322:g.13292_13293insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*280_*281insT	ENSP00000512434.1:n.*280_*281insT
ENST00000696143.1:c.739_740insT	ENSP00000512435.1:n.739_740insT
ENST00000696153.1:c.714_715insT	ENSP00000512444.1:p.Thr239TyrfsTer?
ENST00000256474.3:c.603_604insT MANE Select	ENSP00000256474.3:p.Thr202TyrfsTer?
ENST00000256474.2:c.603_604insT	ENSP00000256474.2:p.Thr202TyrfsTer?
ENST00000345392.2:c.480_481insT	ENSP00000344757.2:p.Thr161TyrfsTer?
ENST00000477538.1:n.739_740insT
NM_000551.3:c.603_604insT , LRG_322t1:c.603_604insT	NP_000542.1:p.Thr202TyrfsTer?
NM_198156.2:c.480_481insT	NP_937799.1:p.Thr161TyrfsTer?
NM_001354723.1:c.*157_*158insT	NP_001341652.1:n.*157_*158insT
NM_000551.4:c.603_604insT MANE Select	NP_000542.1:p.Thr202TyrfsTer?
NM_001354723.2:c.*157_*158insT	NP_001341652.1:n.*157_*158insT
NM_198156.3:c.480_481insT	NP_937799.1:p.Thr161TyrfsTer?