Canonical Allele Identifier: CA2586965684

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149887_10149906dup , CM000665.2:g.10149887_10149906dup	GRCh38
NC_000003.11:g.10191571_10191590dup , CM000665.1:g.10191571_10191590dup	GRCh37
NC_000003.10:g.10166571_10166590dup	NCBI36
NG_008212.3:g.13253_13272dup , LRG_322:g.13253_13272dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*241_*260dup	ENSP00000512434.1:n.*241_*260dup
ENST00000696143.1:c.700_719dup	ENSP00000512435.1:n.700_719dup
ENST00000696153.1:c.675_694dup	ENSP00000512444.1:p.Gln232ArgfsTer14
ENST00000256474.3:c.564_583dup MANE Select	ENSP00000256474.3:p.Gln195ArgfsTer14
ENST00000256474.2:c.564_583dup	ENSP00000256474.2:p.Gln195ArgfsTer14
ENST00000345392.2:c.441_460dup	ENSP00000344757.2:p.Gln154ArgfsTer14
ENST00000477538.1:n.700_719dup
NM_000551.3:c.564_583dup , LRG_322t1:c.564_583dup	NP_000542.1:p.Gln195ArgfsTer14
NM_198156.2:c.441_460dup	NP_937799.1:p.Gln154ArgfsTer14
NM_001354723.1:c.*118_*137dup	NP_001341652.1:n.*118_*137dup
NM_000551.4:c.564_583dup MANE Select	NP_000542.1:p.Gln195ArgfsTer14
NM_001354723.2:c.*118_*137dup	NP_001341652.1:n.*118_*137dup
NM_198156.3:c.441_460dup	NP_937799.1:p.Gln154ArgfsTer14