Canonical Allele Identifier: CA1139655755

Gene: VHL

Linked Data

• ClinVar Variation Id: 945627
• ClinVar RCV Id: RCV001216308
• dbSNP Id: rs1696262591

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146550_10146552dup , CM000665.2:g.10146550_10146552dup	GRCh38
NC_000003.11:g.10188234_10188236dup , CM000665.1:g.10188234_10188236dup	GRCh37
NC_000003.10:g.10163234_10163236dup	NCBI36
NG_008212.3:g.9916_9918dup , LRG_322:g.9916_9918dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*54_*56dup	ENSP00000512434.1:n.*54_*56dup
ENST00000696143.1:c.600-3237_600-3235dup	ENSP00000512435.1:n.600-3237_600-3235dup
ENST00000696153.1:c.377_379dup	ENSP00000512444.1:p.Asp126_Gly127insAsp
ENST00000256474.3:c.377_379dup MANE Select	ENSP00000256474.3:p.Asp126_Gly127insAsp
ENST00000256474.2:c.377_379dup	ENSP00000256474.2:p.Asp126_Gly127insAsp
ENST00000345392.2:c.341-3237_341-3235dup	ENSP00000344757.2:n.341-3237_341-3235dup
ENST00000477538.1:n.513_515dup
NM_000551.3:c.377_379dup , LRG_322t1:c.377_379dup	NP_000542.1:p.Asp126_Gly127insAsp
NM_198156.2:c.341-3237_341-3235dup	NP_937799.1:n.341-3237_341-3235dup
XM_011534078.1:c.*54_*56dup	XP_011532380.1:n.*54_*56dup
NM_001354723.1:c.*18-3237_*18-3235dup	NP_001341652.1:n.*18-3237_*18-3235dup
NM_000551.4:c.377_379dup MANE Select	NP_000542.1:p.Asp126_Gly127insAsp
NM_001354723.2:c.*18-3237_*18-3235dup	NP_001341652.1:n.*18-3237_*18-3235dup
NM_198156.3:c.341-3237_341-3235dup	NP_937799.1:n.341-3237_341-3235dup