Canonical Allele Identifier: CA1345058910

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146634_10146635delinsCA , CM000665.2:g.10146634_10146635delinsCA	GRCh38
NC_000003.11:g.10188318_10188319delinsCA , CM000665.1:g.10188318_10188319delinsCA	GRCh37
NC_000003.10:g.10163318_10163319delinsCA	NCBI36
NG_008212.3:g.10000_10001delinsCA , LRG_322:g.10000_10001delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*138_*139delinsCA	ENSP00000512434.1:n.*138_*139delinsCA
ENST00000696143.1:c.600-3153_600-3152delinsCA	ENSP00000512435.1:n.600-3153_600-3152delinsCA
ENST00000696153.1:c.461_462delinsCA	ENSP00000512444.1:p.Pro154=
ENST00000256474.3:c.461_462delinsCA MANE Select	ENSP00000256474.3:p.Pro154=
ENST00000256474.2:c.461_462delinsCA	ENSP00000256474.2:p.Pro154=
ENST00000345392.2:c.341-3153_341-3152delinsCA	ENSP00000344757.2:n.341-3153_341-3152delinsCA
ENST00000477538.1:n.597_598delinsCA
NM_000551.3:c.461_462delinsCA , LRG_322t1:c.461_462delinsCA	NP_000542.1:p.Pro154=
NM_198156.2:c.341-3153_341-3152delinsCA	NP_937799.1:n.341-3153_341-3152delinsCA
NM_001354723.1:c.*18-3153_*18-3152delinsCA	NP_001341652.1:n.*18-3153_*18-3152delinsCA
NM_000551.4:c.461_462delinsCA MANE Select	NP_000542.1:p.Pro154=
NM_001354723.2:c.*18-3153_*18-3152delinsCA	NP_001341652.1:n.*18-3153_*18-3152delinsCA
NM_198156.3:c.341-3153_341-3152delinsCA	NP_937799.1:n.341-3153_341-3152delinsCA