Canonical Allele Identifier: CA645529566

Gene: VHL

Linked Data

• COSMIC: COSM49061

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149897_10149918del , CM000665.2:g.10149897_10149918del	GRCh38
NC_000003.11:g.10191581_10191602del , CM000665.1:g.10191581_10191602del	GRCh37
NC_000003.10:g.10166581_10166602del	NCBI36
NG_008212.3:g.13263_13284del , LRG_322:g.13263_13284del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*251_*272del	ENSP00000512434.1:n.*251_*272del
ENST00000696143.1:c.710_731del	ENSP00000512435.1:n.710_731del
ENST00000696153.1:c.685_706del	ENSP00000512444.1:p.Pro229SerfsTer3
ENST00000256474.3:c.574_595del MANE Select	ENSP00000256474.3:p.Pro192SerfsTer3
ENST00000256474.2:c.574_595del	ENSP00000256474.2:p.Pro192SerfsTer3
ENST00000345392.2:c.451_472del	ENSP00000344757.2:p.Pro151SerfsTer3
ENST00000477538.1:n.710_731del
NM_000551.3:c.574_595del , LRG_322t1:c.574_595del	NP_000542.1:p.Pro192SerfsTer3
NM_198156.2:c.451_472del	NP_937799.1:p.Pro151SerfsTer3
NM_001354723.1:c.*128_*149del	NP_001341652.1:n.*128_*149del
NM_000551.4:c.574_595del MANE Select	NP_000542.1:p.Pro192SerfsTer3
NM_001354723.2:c.*128_*149del	NP_001341652.1:n.*128_*149del
NM_198156.3:c.451_472del	NP_937799.1:p.Pro151SerfsTer3