Canonical Allele Identifier: CA432423624

Gene: VHL

Linked Data

• COSMIC: COSM14303
• MyVariant Identifiers: chr3:g.10191561del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149877del , CM000665.2:g.10149877del	GRCh38
NC_000003.11:g.10191561del , CM000665.1:g.10191561del	GRCh37
NC_000003.10:g.10166561del	NCBI36
NG_008212.3:g.13243del , LRG_322:g.13243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*231del	ENSP00000512434.1:n.*231del
ENST00000696143.1:c.690del	ENSP00000512435.1:n.690del
ENST00000696153.1:c.665del	ENSP00000512444.1:p.Tyr222SerfsTer17
ENST00000256474.3:c.554del MANE Select	ENSP00000256474.3:p.Tyr185SerfsTer17
ENST00000256474.2:c.554del	ENSP00000256474.2:p.Tyr185SerfsTer17
ENST00000345392.2:c.431del	ENSP00000344757.2:p.Tyr144SerfsTer17
ENST00000477538.1:n.690del
NM_000551.3:c.554del , LRG_322t1:c.554del	NP_000542.1:p.Tyr185SerfsTer17
NM_198156.2:c.431del	NP_937799.1:p.Tyr144SerfsTer17
NM_001354723.1:c.*108del	NP_001341652.1:n.*108del
NM_000551.4:c.554del MANE Select	NP_000542.1:p.Tyr185SerfsTer17
NM_001354723.2:c.*108del	NP_001341652.1:n.*108del
NM_198156.3:c.431del	NP_937799.1:p.Tyr144SerfsTer17