Canonical Allele Identifier: CA916081420

Gene: VHL

Linked Data

• ClinVar Variation Id: 864161
• ClinVar RCV Id: RCV001071279 ; RCV004030782
• dbSNP Id: rs1696260542

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146513_10146515dup , CM000665.2:g.10146513_10146515dup	GRCh38
NC_000003.11:g.10188197_10188199dup , CM000665.1:g.10188197_10188199dup	GRCh37
NC_000003.10:g.10163197_10163199dup	NCBI36
NG_008212.3:g.9879_9881dup , LRG_322:g.9879_9881dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-1_*19dup
ENST00000696143.1:c.600-3274_600-3272dup	ENSP00000512435.1:n.600-3274_600-3272dup
ENST00000696153.1:c.341-1_342dup
ENST00000256474.3:c.341-1_342dup
ENST00000256474.2:c.341-1_342dup
ENST00000345392.2:c.341-3274_341-3272dup	ENSP00000344757.2:n.341-3274_341-3272dup
ENST00000477538.1:n.477-1_478dup
NM_000551.3:c.341-1_342dup , LRG_322t1:c.341-1_342dup
NM_198156.2:c.341-3274_341-3272dup	NP_937799.1:n.341-3274_341-3272dup
XM_011534078.1:c.*18-1_*19dup
NM_001354723.1:c.*18-3274_*18-3272dup	NP_001341652.1:n.*18-3274_*18-3272dup
NM_000551.4:c.341-1_342dup
NM_001354723.2:c.*18-3274_*18-3272dup	NP_001341652.1:n.*18-3274_*18-3272dup
NM_198156.3:c.341-3274_341-3272dup	NP_937799.1:n.341-3274_341-3272dup