Canonical Allele Identifier: CA645525062

Gene: VHL

Linked Data

• COSMIC: COSM6023871

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149809_10149810del , CM000665.2:g.10149809_10149810del	GRCh38
NC_000003.11:g.10191493_10191494del , CM000665.1:g.10191493_10191494del	GRCh37
NC_000003.10:g.10166493_10166494del	NCBI36
NG_008212.3:g.13175_13176del , LRG_322:g.13175_13176del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*163_*164del	ENSP00000512434.1:n.*163_*164del
ENST00000696143.1:c.622_623del	ENSP00000512435.1:n.622_623del
ENST00000696153.1:c.597_598del	ENSP00000512444.1:p.Leu200ProfsTer10
ENST00000256474.3:c.486_487del MANE Select	ENSP00000256474.3:p.Leu163ProfsTer10
ENST00000256474.2:c.486_487del	ENSP00000256474.2:p.Leu163ProfsTer10
ENST00000345392.2:c.363_364del	ENSP00000344757.2:p.Leu122ProfsTer10
ENST00000477538.1:n.622_623del
NM_000551.3:c.486_487del , LRG_322t1:c.486_487del	NP_000542.1:p.Leu163ProfsTer10
NM_198156.2:c.363_364del	NP_937799.1:p.Leu122ProfsTer10
NM_001354723.1:c.*40_*41del	NP_001341652.1:n.*40_*41del
NM_000551.4:c.486_487del MANE Select	NP_000542.1:p.Leu163ProfsTer10
NM_001354723.2:c.*40_*41del	NP_001341652.1:n.*40_*41del
NM_198156.3:c.363_364del	NP_937799.1:p.Leu122ProfsTer10