Canonical Allele Identifier: CA432423085

Gene: VHL

Linked Data

• COSMIC: COSM18121
• MyVariant Identifiers: chr3:g.10191479del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149795del , CM000665.2:g.10149795del	GRCh38
NC_000003.11:g.10191479del , CM000665.1:g.10191479del	GRCh37
NC_000003.10:g.10166479del	NCBI36
NG_008212.3:g.13161del , LRG_322:g.13161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*149del	ENSP00000512434.1:n.*149del
ENST00000696143.1:c.608del	ENSP00000512435.1:n.608del
ENST00000696153.1:c.583del	ENSP00000512444.1:p.Leu195Ter
ENST00000256474.3:c.472del MANE Select	ENSP00000256474.3:p.Leu158Ter
ENST00000256474.2:c.472del	ENSP00000256474.2:p.Leu158Ter
ENST00000345392.2:c.349del	ENSP00000344757.2:p.Leu117Ter
ENST00000477538.1:n.608del
NM_000551.3:c.472del , LRG_322t1:c.472del	NP_000542.1:p.Leu158Ter
NM_198156.2:c.349del	NP_937799.1:p.Leu117Ter
NM_001354723.1:c.*26del	NP_001341652.1:n.*26del
NM_000551.4:c.472del MANE Select	NP_000542.1:p.Leu158Ter
NM_001354723.2:c.*26del	NP_001341652.1:n.*26del
NM_198156.3:c.349del	NP_937799.1:p.Leu117Ter