Canonical Allele Identifier: CA645525095

Gene: VHL

Linked Data

• COSMIC: COSM17931

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149845_10149846dup , CM000665.2:g.10149845_10149846dup	GRCh38
NC_000003.11:g.10191529_10191530dup , CM000665.1:g.10191529_10191530dup	GRCh37
NC_000003.10:g.10166529_10166530dup	NCBI36
NG_008212.3:g.13211_13212dup , LRG_322:g.13211_13212dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*199_*200dup	ENSP00000512434.1:n.*199_*200dup
ENST00000696143.1:c.658_659dup	ENSP00000512435.1:n.658_659dup
ENST00000696153.1:c.633_634dup	ENSP00000512444.1:p.Tyr212PhefsTer28
ENST00000256474.3:c.522_523dup MANE Select	ENSP00000256474.3:p.Tyr175PhefsTer28
ENST00000256474.2:c.522_523dup	ENSP00000256474.2:p.Tyr175PhefsTer28
ENST00000345392.2:c.399_400dup	ENSP00000344757.2:p.Tyr134PhefsTer28
ENST00000477538.1:n.658_659dup
NM_000551.3:c.522_523dup , LRG_322t1:c.522_523dup	NP_000542.1:p.Tyr175PhefsTer28
NM_198156.2:c.399_400dup	NP_937799.1:p.Tyr134PhefsTer28
NM_001354723.1:c.*76_*77dup	NP_001341652.1:n.*76_*77dup
NM_000551.4:c.522_523dup MANE Select	NP_000542.1:p.Tyr175PhefsTer28
NM_001354723.2:c.*76_*77dup	NP_001341652.1:n.*76_*77dup
NM_198156.3:c.399_400dup	NP_937799.1:p.Tyr134PhefsTer28