Canonical Allele Identifier: CA658822549

Gene: VHL

Linked Data

• ClinVar Variation Id: 545823
• ClinVar RCV Id: RCV000657387 ; RCV000660352
• dbSNP Id: rs1553620331

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149854_10149865delinsTC , CM000665.2:g.10149854_10149865delinsTC	GRCh38
NC_000003.11:g.10191538_10191549delinsTC , CM000665.1:g.10191538_10191549delinsTC	GRCh37
NC_000003.10:g.10166538_10166549delinsTC	NCBI36
NG_008212.3:g.13220_13231delinsTC , LRG_322:g.13220_13231delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*208_*219delinsTC	ENSP00000512434.1:n.*208_*219delinsTC
ENST00000696143.1:c.667_678delinsTC	ENSP00000512435.1:n.667_678delinsTC
ENST00000696153.1:c.642_653delinsTC	ENSP00000512444.1:p.Arg214SerfsTer22
ENST00000256474.3:c.531_542delinsTC MANE Select	ENSP00000256474.3:p.Arg177SerfsTer22
ENST00000256474.2:c.531_542delinsTC	ENSP00000256474.2:p.Arg177SerfsTer22
ENST00000345392.2:c.408_419delinsTC	ENSP00000344757.2:p.Arg136SerfsTer22
ENST00000477538.1:n.667_678delinsTC
NM_000551.3:c.531_542delinsTC , LRG_322t1:c.531_542delinsTC	NP_000542.1:p.Arg177SerfsTer22
NM_198156.2:c.408_419delinsTC	NP_937799.1:p.Arg136SerfsTer22
NM_001354723.1:c.*85_*96delinsTC	NP_001341652.1:n.*85_*96delinsTC
NM_000551.4:c.531_542delinsTC MANE Select	NP_000542.1:p.Arg177SerfsTer22
NM_001354723.2:c.*85_*96delinsTC	NP_001341652.1:n.*85_*96delinsTC
NM_198156.3:c.408_419delinsTC	NP_937799.1:p.Arg136SerfsTer22