Canonical Allele Identifier: CA1345062469

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149848_10149849delinsCA , CM000665.2:g.10149848_10149849delinsCA	GRCh38
NC_000003.11:g.10191532_10191533delinsCA , CM000665.1:g.10191532_10191533delinsCA	GRCh37
NC_000003.10:g.10166532_10166533delinsCA	NCBI36
NG_008212.3:g.13214_13215delinsCA , LRG_322:g.13214_13215delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*202_*203delinsCA	ENSP00000512434.1:n.*202_*203delinsCA
ENST00000696143.1:c.661_662delinsCA	ENSP00000512435.1:n.661_662delinsCA
ENST00000696153.1:c.636_637delinsCA	ENSP00000512444.1:p.Tyr212=
ENST00000256474.3:c.525_526delinsCA MANE Select	ENSP00000256474.3:p.Tyr175=
ENST00000256474.2:c.525_526delinsCA	ENSP00000256474.2:p.Tyr175=
ENST00000345392.2:c.402_403delinsCA	ENSP00000344757.2:p.Tyr134=
ENST00000477538.1:n.661_662delinsCA
NM_000551.3:c.525_526delinsCA , LRG_322t1:c.525_526delinsCA	NP_000542.1:p.Tyr175=
NM_198156.2:c.402_403delinsCA	NP_937799.1:p.Tyr134=
NM_001354723.1:c.*79_*80delinsCA	NP_001341652.1:n.*79_*80delinsCA
NM_000551.4:c.525_526delinsCA MANE Select	NP_000542.1:p.Tyr175=
NM_001354723.2:c.*79_*80delinsCA	NP_001341652.1:n.*79_*80delinsCA
NM_198156.3:c.402_403delinsCA	NP_937799.1:p.Tyr134=