Canonical Allele Identifier: CA2499306821

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149839_10149840dup , CM000665.2:g.10149839_10149840dup	GRCh38
NC_000003.11:g.10191523_10191524dup , CM000665.1:g.10191523_10191524dup	GRCh37
NC_000003.10:g.10166523_10166524dup	NCBI36
NG_008212.3:g.13205_13206dup , LRG_322:g.13205_13206dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*193_*194dup	ENSP00000512434.1:n.*193_*194dup
ENST00000696143.1:c.652_653dup	ENSP00000512435.1:n.652_653dup
ENST00000696153.1:c.627_628dup	ENSP00000512444.1:p.Glu210ValfsTer30
ENST00000256474.3:c.516_517dup MANE Select	ENSP00000256474.3:p.Glu173ValfsTer30
ENST00000256474.2:c.516_517dup	ENSP00000256474.2:p.Glu173ValfsTer30
ENST00000345392.2:c.393_394dup	ENSP00000344757.2:p.Glu132ValfsTer30
ENST00000477538.1:n.652_653dup
NM_000551.3:c.516_517dup , LRG_322t1:c.516_517dup	NP_000542.1:p.Glu173ValfsTer30
NM_198156.2:c.393_394dup	NP_937799.1:p.Glu132ValfsTer30
NM_001354723.1:c.*70_*71dup	NP_001341652.1:n.*70_*71dup
NM_000551.4:c.516_517dup MANE Select	NP_000542.1:p.Glu173ValfsTer30
NM_001354723.2:c.*70_*71dup	NP_001341652.1:n.*70_*71dup
NM_198156.3:c.393_394dup	NP_937799.1:p.Glu132ValfsTer30