Canonical Allele Identifier: CA2580068484

Gene: VHL

Linked Data

• ClinVar Variation Id: 2119727
• ClinVar RCV Id: RCV003054800

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149847dup , CM000665.2:g.10149847dup	GRCh38
NC_000003.11:g.10191531dup , CM000665.1:g.10191531dup	GRCh37
NC_000003.10:g.10166531dup	NCBI36
NG_008212.3:g.13213dup , LRG_322:g.13213dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*201dup	ENSP00000512434.1:n.*201dup
ENST00000696143.1:c.660dup	ENSP00000512435.1:n.660dup
ENST00000696153.1:c.635dup	ENSP00000512444.1:p.Tyr212Ter
ENST00000256474.3:c.524dup MANE Select	ENSP00000256474.3:p.Tyr175Ter
ENST00000256474.2:c.524dup	ENSP00000256474.2:p.Tyr175Ter
ENST00000345392.2:c.401dup	ENSP00000344757.2:p.Tyr134Ter
ENST00000477538.1:n.660dup
NM_000551.3:c.524dup , LRG_322t1:c.524dup	NP_000542.1:p.Tyr175Ter
NM_198156.2:c.401dup	NP_937799.1:p.Tyr134Ter
NM_001354723.1:c.*78dup	NP_001341652.1:n.*78dup
NM_000551.4:c.524dup MANE Select	NP_000542.1:p.Tyr175Ter
NM_001354723.2:c.*78dup	NP_001341652.1:n.*78dup
NM_198156.3:c.401dup	NP_937799.1:p.Tyr134Ter