Canonical Allele Identifier: CA913185019

Gene: VHL

Linked Data

• CIViC: CA913185019

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149848del , CM000665.2:g.10149848del	GRCh38
NC_000003.11:g.10191532del , CM000665.1:g.10191532del	GRCh37
NC_000003.10:g.10166532del	NCBI36
NG_008212.3:g.13214del , LRG_322:g.13214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*202del	ENSP00000512434.1:n.*202del
ENST00000696143.1:c.661del	ENSP00000512435.1:n.661del
ENST00000696153.1:c.636del	ENSP00000512444.1:p.Tyr212Ter
ENST00000256474.3:c.525del MANE Select	ENSP00000256474.3:p.Tyr175Ter
ENST00000256474.2:c.525del	ENSP00000256474.2:p.Tyr175Ter
ENST00000345392.2:c.402del	ENSP00000344757.2:p.Tyr134Ter
ENST00000477538.1:n.661del
NM_000551.3:c.525del , LRG_322t1:c.525del	NP_000542.1:p.Tyr175Ter
NM_198156.2:c.402del	NP_937799.1:p.Tyr134Ter
NM_001354723.1:c.*79del	NP_001341652.1:n.*79del
NM_000551.4:c.525del MANE Select	NP_000542.1:p.Tyr175Ter
NM_001354723.2:c.*79del	NP_001341652.1:n.*79del
NM_198156.3:c.402del	NP_937799.1:p.Tyr134Ter