Canonical Allele Identifier: CA645529534

Gene: VHL

Linked Data

• COSMIC: COSM30252

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149867_10149868del , CM000665.2:g.10149867_10149868del	GRCh38
NC_000003.11:g.10191551_10191552del , CM000665.1:g.10191551_10191552del	GRCh37
NC_000003.10:g.10166551_10166552del	NCBI36
NG_008212.3:g.13233_13234del , LRG_322:g.13233_13234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*221_*222del	ENSP00000512434.1:n.*221_*222del
ENST00000696143.1:c.680_681del	ENSP00000512435.1:n.680_681del
ENST00000696153.1:c.655_656del	ENSP00000512444.1:p.Arg219ValfsTer?
ENST00000256474.3:c.544_545del MANE Select	ENSP00000256474.3:p.Arg182ValfsTer?
ENST00000256474.2:c.544_545del	ENSP00000256474.2:p.Arg182ValfsTer?
ENST00000345392.2:c.421_422del	ENSP00000344757.2:p.Arg141ValfsTer?
ENST00000477538.1:n.680_681del
NM_000551.3:c.544_545del , LRG_322t1:c.544_545del	NP_000542.1:p.Arg182ValfsTer?
NM_198156.2:c.421_422del	NP_937799.1:p.Arg141ValfsTer?
NM_001354723.1:c.*98_*99del	NP_001341652.1:n.*98_*99del
NM_000551.4:c.544_545del MANE Select	NP_000542.1:p.Arg182ValfsTer?
NM_001354723.2:c.*98_*99del	NP_001341652.1:n.*98_*99del
NM_198156.3:c.421_422del	NP_937799.1:p.Arg141ValfsTer?