Canonical Allele Identifier: CA645529542

Gene: VHL

Linked Data

• COSMIC: COSM30328

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149877_10149895del , CM000665.2:g.10149877_10149895del	GRCh38
NC_000003.11:g.10191561_10191579del , CM000665.1:g.10191561_10191579del	GRCh37
NC_000003.10:g.10166561_10166579del	NCBI36
NG_008212.3:g.13243_13261del , LRG_322:g.13243_13261del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*231_*249del	ENSP00000512434.1:n.*231_*249del
ENST00000696143.1:c.690_708del	ENSP00000512435.1:n.690_708del
ENST00000696153.1:c.665_683del	ENSP00000512444.1:p.Tyr222SerfsTer11
ENST00000256474.3:c.554_572del MANE Select	ENSP00000256474.3:p.Tyr185SerfsTer11
ENST00000256474.2:c.554_572del	ENSP00000256474.2:p.Tyr185SerfsTer11
ENST00000345392.2:c.431_449del	ENSP00000344757.2:p.Tyr144SerfsTer11
ENST00000477538.1:n.690_708del
NM_000551.3:c.554_572del , LRG_322t1:c.554_572del	NP_000542.1:p.Tyr185SerfsTer11
NM_198156.2:c.431_449del	NP_937799.1:p.Tyr144SerfsTer11
NM_001354723.1:c.*108_*126del	NP_001341652.1:n.*108_*126del
NM_000551.4:c.554_572del MANE Select	NP_000542.1:p.Tyr185SerfsTer11
NM_001354723.2:c.*108_*126del	NP_001341652.1:n.*108_*126del
NM_198156.3:c.431_449del	NP_937799.1:p.Tyr144SerfsTer11