Canonical Allele Identifier: CA1345062602

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149869_10149870delinsGT , CM000665.2:g.10149869_10149870delinsGT	GRCh38
NC_000003.11:g.10191553_10191554delinsGT , CM000665.1:g.10191553_10191554delinsGT	GRCh37
NC_000003.10:g.10166553_10166554delinsGT	NCBI36
NG_008212.3:g.13235_13236delinsGT , LRG_322:g.13235_13236delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*223_*224delinsGT	ENSP00000512434.1:n.*223_*224delinsGT
ENST00000696143.1:c.682_683delinsGT	ENSP00000512435.1:n.682_683delinsGT
ENST00000696153.1:c.657_658delinsGT	ENSP00000512444.1:p.Arg219=
ENST00000256474.3:c.546_547delinsGT MANE Select	ENSP00000256474.3:p.Arg182=
ENST00000256474.2:c.546_547delinsGT	ENSP00000256474.2:p.Arg182=
ENST00000345392.2:c.423_424delinsGT	ENSP00000344757.2:p.Arg141=
ENST00000477538.1:n.682_683delinsGT
NM_000551.3:c.546_547delinsGT , LRG_322t1:c.546_547delinsGT	NP_000542.1:p.Arg182=
NM_198156.2:c.423_424delinsGT	NP_937799.1:p.Arg141=
NM_001354723.1:c.*100_*101delinsGT	NP_001341652.1:n.*100_*101delinsGT
NM_000551.4:c.546_547delinsGT MANE Select	NP_000542.1:p.Arg182=
NM_001354723.2:c.*100_*101delinsGT	NP_001341652.1:n.*100_*101delinsGT
NM_198156.3:c.423_424delinsGT	NP_937799.1:p.Arg141=