Canonical Allele Identifier: CA645525079

Gene: VHL

Linked Data

• COSMIC: COSM1732007

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149829_10149833del , CM000665.2:g.10149829_10149833del	GRCh38
NC_000003.11:g.10191513_10191517del , CM000665.1:g.10191513_10191517del	GRCh37
NC_000003.10:g.10166513_10166517del	NCBI36
NG_008212.3:g.13195_13199del , LRG_322:g.13195_13199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*183_*187del	ENSP00000512434.1:n.*183_*187del
ENST00000696143.1:c.642_646del	ENSP00000512435.1:n.642_646del
ENST00000696153.1:c.617_621del	ENSP00000512444.1:p.Leu206GlnfsTer3
ENST00000256474.3:c.506_510del MANE Select	ENSP00000256474.3:p.Leu169GlnfsTer3
ENST00000256474.2:c.506_510del	ENSP00000256474.2:p.Leu169GlnfsTer3
ENST00000345392.2:c.383_387del	ENSP00000344757.2:p.Leu128GlnfsTer3
ENST00000477538.1:n.642_646del
NM_000551.3:c.506_510del , LRG_322t1:c.506_510del	NP_000542.1:p.Leu169GlnfsTer3
NM_198156.2:c.383_387del	NP_937799.1:p.Leu128GlnfsTer3
NM_001354723.1:c.*60_*64del	NP_001341652.1:n.*60_*64del
NM_000551.4:c.506_510del MANE Select	NP_000542.1:p.Leu169GlnfsTer3
NM_001354723.2:c.*60_*64del	NP_001341652.1:n.*60_*64del
NM_198156.3:c.383_387del	NP_937799.1:p.Leu128GlnfsTer3