Canonical Allele Identifier: CA645529567

Gene: VHL

Linked Data

• COSMIC: COSM423213

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149899_10149915del , CM000665.2:g.10149899_10149915del	GRCh38
NC_000003.11:g.10191583_10191599del , CM000665.1:g.10191583_10191599del	GRCh37
NC_000003.10:g.10166583_10166599del	NCBI36
NG_008212.3:g.13265_13281del , LRG_322:g.13265_13281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*253_*269del	ENSP00000512434.1:n.*253_*269del
ENST00000696143.1:c.712_728del	ENSP00000512435.1:n.712_728del
ENST00000696153.1:c.687_703del	ENSP00000512444.1:p.Asn230GlyfsTer?
ENST00000256474.3:c.576_592del MANE Select	ENSP00000256474.3:p.Asn193GlyfsTer?
ENST00000256474.2:c.576_592del	ENSP00000256474.2:p.Asn193GlyfsTer?
ENST00000345392.2:c.453_469del	ENSP00000344757.2:p.Asn152GlyfsTer?
ENST00000477538.1:n.712_728del
NM_000551.3:c.576_592del , LRG_322t1:c.576_592del	NP_000542.1:p.Asn193GlyfsTer?
NM_198156.2:c.453_469del	NP_937799.1:p.Asn152GlyfsTer?
NM_001354723.1:c.*130_*146del	NP_001341652.1:n.*130_*146del
NM_000551.4:c.576_592del MANE Select	NP_000542.1:p.Asn193GlyfsTer?
NM_001354723.2:c.*130_*146del	NP_001341652.1:n.*130_*146del
NM_198156.3:c.453_469del	NP_937799.1:p.Asn152GlyfsTer?