Canonical Allele Identifier: CA1345062389

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149831_10149832delinsGT , CM000665.2:g.10149831_10149832delinsGT	GRCh38
NC_000003.11:g.10191515_10191516delinsGT , CM000665.1:g.10191515_10191516delinsGT	GRCh37
NC_000003.10:g.10166515_10166516delinsGT	NCBI36
NG_008212.3:g.13197_13198delinsGT , LRG_322:g.13197_13198delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*185_*186delinsGT	ENSP00000512434.1:n.*185_*186delinsGT
ENST00000696143.1:c.644_645delinsGT	ENSP00000512435.1:n.644_645delinsGT
ENST00000696153.1:c.619_620delinsGT	ENSP00000512444.1:p.Val207=
ENST00000256474.3:c.508_509delinsGT MANE Select	ENSP00000256474.3:p.Val170=
ENST00000256474.2:c.508_509delinsGT	ENSP00000256474.2:p.Val170=
ENST00000345392.2:c.385_386delinsGT	ENSP00000344757.2:p.Val129=
ENST00000477538.1:n.644_645delinsGT
NM_000551.3:c.508_509delinsGT , LRG_322t1:c.508_509delinsGT	NP_000542.1:p.Val170=
NM_198156.2:c.385_386delinsGT	NP_937799.1:p.Val129=
NM_001354723.1:c.*62_*63delinsGT	NP_001341652.1:n.*62_*63delinsGT
NM_000551.4:c.508_509delinsGT MANE Select	NP_000542.1:p.Val170=
NM_001354723.2:c.*62_*63delinsGT	NP_001341652.1:n.*62_*63delinsGT
NM_198156.3:c.385_386delinsGT	NP_937799.1:p.Val129=