Canonical Allele Identifier: CA645525077

Gene: VHL

Linked Data

• COSMIC: COSM14401

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149827_10149834del , CM000665.2:g.10149827_10149834del	GRCh38
NC_000003.11:g.10191511_10191518del , CM000665.1:g.10191511_10191518del	GRCh37
NC_000003.10:g.10166511_10166518del	NCBI36
NG_008212.3:g.13193_13200del , LRG_322:g.13193_13200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*181_*188del	ENSP00000512434.1:n.*181_*188del
ENST00000696143.1:c.640_647del	ENSP00000512435.1:n.640_647del
ENST00000696153.1:c.615_622del	ENSP00000512444.1:p.Ser205ArgfsTer3
ENST00000256474.3:c.504_511del MANE Select	ENSP00000256474.3:p.Ser168ArgfsTer3
ENST00000256474.2:c.504_511del	ENSP00000256474.2:p.Ser168ArgfsTer3
ENST00000345392.2:c.381_388del	ENSP00000344757.2:p.Ser127ArgfsTer3
ENST00000477538.1:n.640_647del
NM_000551.3:c.504_511del , LRG_322t1:c.504_511del	NP_000542.1:p.Ser168ArgfsTer3
NM_198156.2:c.381_388del	NP_937799.1:p.Ser127ArgfsTer3
NM_001354723.1:c.*58_*65del	NP_001341652.1:n.*58_*65del
NM_000551.4:c.504_511del MANE Select	NP_000542.1:p.Ser168ArgfsTer3
NM_001354723.2:c.*58_*65del	NP_001341652.1:n.*58_*65del
NM_198156.3:c.381_388del	NP_937799.1:p.Ser127ArgfsTer3