Canonical Allele Identifier: CA2586963895

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149888_10149908dup , CM000665.2:g.10149888_10149908dup	GRCh38
NC_000003.11:g.10191572_10191592dup , CM000665.1:g.10191572_10191592dup	GRCh37
NC_000003.10:g.10166572_10166592dup	NCBI36
NG_008212.3:g.13254_13274dup , LRG_322:g.13254_13274dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*242_*262dup	ENSP00000512434.1:n.*242_*262dup
ENST00000696143.1:c.701_721dup	ENSP00000512435.1:n.701_721dup
ENST00000696153.1:c.676_696dup	ENSP00000512444.1:p.Gln232_Lys233insGluAspHisProAsnValGln
ENST00000256474.3:c.565_585dup MANE Select	ENSP00000256474.3:p.Gln195_Lys196insGluAspHisProAsnValGln
ENST00000256474.2:c.565_585dup	ENSP00000256474.2:p.Gln195_Lys196insGluAspHisProAsnValGln
ENST00000345392.2:c.442_462dup	ENSP00000344757.2:p.Gln154_Lys155insGluAspHisProAsnValGln
ENST00000477538.1:n.701_721dup
NM_000551.3:c.565_585dup , LRG_322t1:c.565_585dup	NP_000542.1:p.Gln195_Lys196insGluAspHisProAsnValGln
NM_198156.2:c.442_462dup	NP_937799.1:p.Gln154_Lys155insGluAspHisProAsnValGln
NM_001354723.1:c.*119_*139dup	NP_001341652.1:n.*119_*139dup
NM_000551.4:c.565_585dup MANE Select	NP_000542.1:p.Gln195_Lys196insGluAspHisProAsnValGln
NM_001354723.2:c.*119_*139dup	NP_001341652.1:n.*119_*139dup
NM_198156.3:c.442_462dup	NP_937799.1:p.Gln154_Lys155insGluAspHisProAsnValGln