Canonical Allele Identifier: CA2573320436

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149806_10149808dup , CM000665.2:g.10149806_10149808dup	GRCh38
NC_000003.11:g.10191490_10191492dup , CM000665.1:g.10191490_10191492dup	GRCh37
NC_000003.10:g.10166490_10166492dup	NCBI36
NG_008212.3:g.13172_13174dup , LRG_322:g.13172_13174dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*160_*162dup	ENSP00000512434.1:n.*160_*162dup
ENST00000696143.1:c.619_621dup	ENSP00000512435.1:n.619_621dup
ENST00000696153.1:c.594_596dup	ENSP00000512444.1:p.Cys199Ter
ENST00000256474.3:c.483_485dup MANE Select	ENSP00000256474.3:p.Cys162Ter
ENST00000256474.2:c.483_485dup	ENSP00000256474.2:p.Cys162Ter
ENST00000345392.2:c.360_362dup	ENSP00000344757.2:p.Cys121Ter
ENST00000477538.1:n.619_621dup
NM_000551.3:c.483_485dup , LRG_322t1:c.483_485dup	NP_000542.1:p.Cys162Ter
NM_198156.2:c.360_362dup	NP_937799.1:p.Cys121Ter
NM_001354723.1:c.*37_*39dup	NP_001341652.1:n.*37_*39dup
NM_000551.4:c.483_485dup MANE Select	NP_000542.1:p.Cys162Ter
NM_001354723.2:c.*37_*39dup	NP_001341652.1:n.*37_*39dup
NM_198156.3:c.360_362dup	NP_937799.1:p.Cys121Ter