Canonical Allele Identifier: CA645529577

Gene: VHL

Linked Data

• COSMIC: COSM5017321

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149916_10149917dup , CM000665.2:g.10149916_10149917dup	GRCh38
NC_000003.11:g.10191600_10191601dup , CM000665.1:g.10191600_10191601dup	GRCh37
NC_000003.10:g.10166600_10166601dup	NCBI36
NG_008212.3:g.13282_13283dup , LRG_322:g.13282_13283dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*270_*271dup	ENSP00000512434.1:n.*270_*271dup
ENST00000696143.1:c.729_730dup	ENSP00000512435.1:n.729_730dup
ENST00000696153.1:c.704_705dup	ENSP00000512444.1:p.Glu236TrpfsTer4
ENST00000256474.3:c.593_594dup MANE Select	ENSP00000256474.3:p.Glu199TrpfsTer4
ENST00000256474.2:c.593_594dup	ENSP00000256474.2:p.Glu199TrpfsTer4
ENST00000345392.2:c.470_471dup	ENSP00000344757.2:p.Glu158TrpfsTer4
ENST00000477538.1:n.729_730dup
NM_000551.3:c.593_594dup , LRG_322t1:c.593_594dup	NP_000542.1:p.Glu199TrpfsTer4
NM_198156.2:c.470_471dup	NP_937799.1:p.Glu158TrpfsTer4
NM_001354723.1:c.*147_*148dup	NP_001341652.1:n.*147_*148dup
NM_000551.4:c.593_594dup MANE Select	NP_000542.1:p.Glu199TrpfsTer4
NM_001354723.2:c.*147_*148dup	NP_001341652.1:n.*147_*148dup
NM_198156.3:c.470_471dup	NP_937799.1:p.Glu158TrpfsTer4