Canonical Allele Identifier: CA432423635

Gene: VHL

Linked Data

• COSMIC: COSM423211
• MyVariant Identifiers: chr3:g.10191562del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149878del , CM000665.2:g.10149878del	GRCh38
NC_000003.11:g.10191562del , CM000665.1:g.10191562del	GRCh37
NC_000003.10:g.10166562del	NCBI36
NG_008212.3:g.13244del , LRG_322:g.13244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*232del	ENSP00000512434.1:n.*232del
ENST00000696143.1:c.691del	ENSP00000512435.1:n.691del
ENST00000696153.1:c.666del	ENSP00000512444.1:p.Tyr222Ter
ENST00000256474.3:c.555del MANE Select	ENSP00000256474.3:p.Tyr185Ter
ENST00000256474.2:c.555del	ENSP00000256474.2:p.Tyr185Ter
ENST00000345392.2:c.432del	ENSP00000344757.2:p.Tyr144Ter
ENST00000477538.1:n.691del
NM_000551.3:c.555del , LRG_322t1:c.555del	NP_000542.1:p.Tyr185Ter
NM_198156.2:c.432del	NP_937799.1:p.Tyr144Ter
NM_001354723.1:c.*109del	NP_001341652.1:n.*109del
NM_000551.4:c.555del MANE Select	NP_000542.1:p.Tyr185Ter
NM_001354723.2:c.*109del	NP_001341652.1:n.*109del
NM_198156.3:c.432del	NP_937799.1:p.Tyr144Ter