Canonical Allele Identifier: CA2573119327

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149804_10149817dup , CM000665.2:g.10149804_10149817dup	GRCh38
NC_000003.11:g.10191488_10191501dup , CM000665.1:g.10191488_10191501dup	GRCh37
NC_000003.10:g.10166488_10166501dup	NCBI36
NG_008212.3:g.13170_13183dup , LRG_322:g.13170_13183dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*158_*171dup	ENSP00000512434.1:n.*158_*171dup
ENST00000696143.1:c.617_630dup	ENSP00000512435.1:n.617_630dup
ENST00000696153.1:c.592_605dup	ENSP00000512444.1:p.Val203AspfsTer9
ENST00000256474.3:c.481_494dup MANE Select	ENSP00000256474.3:p.Val166AspfsTer9
ENST00000256474.2:c.481_494dup	ENSP00000256474.2:p.Val166AspfsTer9
ENST00000345392.2:c.358_371dup	ENSP00000344757.2:p.Val125AspfsTer9
ENST00000477538.1:n.617_630dup
NM_000551.3:c.481_494dup , LRG_322t1:c.481_494dup	NP_000542.1:p.Val166AspfsTer9
NM_198156.2:c.358_371dup	NP_937799.1:p.Val125AspfsTer9
NM_001354723.1:c.*35_*48dup	NP_001341652.1:n.*35_*48dup
NM_000551.4:c.481_494dup MANE Select	NP_000542.1:p.Val166AspfsTer9
NM_001354723.2:c.*35_*48dup	NP_001341652.1:n.*35_*48dup
NM_198156.3:c.358_371dup	NP_937799.1:p.Val125AspfsTer9