Canonical Allele Identifier: CA432423035

Gene: VHL

Linked Data

• COSMIC: COSM17844
• MyVariant Identifiers: chr3:g.10191471del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149787del , CM000665.2:g.10149787del	GRCh38
NC_000003.11:g.10191471del , CM000665.1:g.10191471del	GRCh37
NC_000003.10:g.10166471del	NCBI36
NG_008212.3:g.13153del , LRG_322:g.13153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141del	ENSP00000512434.1:n.*141del
ENST00000696143.1:c.600del	ENSP00000512435.1:n.600del
ENST00000696153.1:c.575del	ENSP00000512444.1:p.Val192GlyfsTer4
ENST00000256474.3:c.464del MANE Select	ENSP00000256474.3:p.Val155GlyfsTer4
ENST00000256474.2:c.464del	ENSP00000256474.2:p.Val155GlyfsTer4
ENST00000345392.2:c.341del	ENSP00000344757.2:p.Val114GlyfsTer4
ENST00000477538.1:n.600del
NM_000551.3:c.464del , LRG_322t1:c.464del	NP_000542.1:p.Val155GlyfsTer4
NM_198156.2:c.341del	NP_937799.1:p.Val114GlyfsTer4
NM_001354723.1:c.*18del	NP_001341652.1:n.*18del
NM_000551.4:c.464del MANE Select	NP_000542.1:p.Val155GlyfsTer4
NM_001354723.2:c.*18del	NP_001341652.1:n.*18del
NM_198156.3:c.341del	NP_937799.1:p.Val114GlyfsTer4