Canonical Allele Identifier: CA2580068448

Gene: VHL

Linked Data

• ClinVar Variation Id: 2024371
• ClinVar RCV Id: RCV002880270

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142976del , CM000665.2:g.10142976del	GRCh38
NC_000003.11:g.10184660del , CM000665.1:g.10184660del	GRCh37
NC_000003.10:g.10159660del	NCBI36
NG_008212.3:g.6342del , LRG_322:g.6342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.554del	ENSP00000512434.1:p.Pro185ArgfsTer12
ENST00000696143.1:c.554del	ENSP00000512435.1:p.Pro185ArgfsTer12
ENST00000696153.1:c.340+789del	ENSP00000512444.1:n.340+789del
ENST00000256474.3:c.340+789del MANE Select	ENSP00000256474.3:n.340+789del
ENST00000256474.2:c.340+789del	ENSP00000256474.2:n.340+789del
ENST00000345392.2:c.340+789del	ENSP00000344757.2:n.340+789del
ENST00000477538.1:n.431del
NM_000551.3:c.340+789del , LRG_322t1:c.340+789del	NP_000542.1:n.340+789del
NM_198156.2:c.340+789del	NP_937799.1:n.340+789del
XM_011534078.1:c.554del	XP_011532380.1:p.Pro185ArgfsTer12
NM_001354723.1:c.554del	NP_001341652.1:p.Pro185ArgfsTer12
NM_000551.4:c.340+789del MANE Select	NP_000542.1:n.340+789del
NM_001354723.2:c.554del	NP_001341652.1:p.Pro185ArgfsTer12
NM_198156.3:c.340+789del	NP_937799.1:n.340+789del