Canonical Allele Identifier: CA658795185
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149915_10149916del , CM000665.2:g.10149915_10149916del GRCh38
NC_000003.11:g.10191599_10191600del , CM000665.1:g.10191599_10191600del GRCh37
NC_000003.10:g.10166599_10166600del NCBI36
NG_008212.3:g.13281_13282del , LRG_322:g.13281_13282del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*269_*270del ENSP00000512434.1:n.*269_*270del
ENST00000696143.1:c.728_729del ENSP00000512435.1:n.728_729del
ENST00000696153.1:c.703_704del ENSP00000512444.1:p.Leu235GlyfsTer?
ENST00000256474.3:c.592_593del MANE Select ENSP00000256474.3:p.Leu198GlyfsTer?
ENST00000256474.2:c.592_593del ENSP00000256474.2:p.Leu198GlyfsTer?
ENST00000345392.2:c.469_470del ENSP00000344757.2:p.Leu157GlyfsTer?
ENST00000477538.1:n.728_729del
NM_000551.3:c.592_593del , LRG_322t1:c.592_593del NP_000542.1:p.Leu198GlyfsTer?
NM_198156.2:c.469_470del NP_937799.1:p.Leu157GlyfsTer?
NM_001354723.1:c.*146_*147del NP_001341652.1:n.*146_*147del
NM_000551.4:c.592_593del MANE Select NP_000542.1:p.Leu198GlyfsTer?
NM_001354723.2:c.*146_*147del NP_001341652.1:n.*146_*147del
NM_198156.3:c.469_470del NP_937799.1:p.Leu157GlyfsTer?