Canonical Allele Identifier: CA540875886

Gene: VHL

Linked Data

• ClinVar Variation Id: 1047639
• ClinVar RCV Id: RCV001352380 ; RCV003946013
• dbSNP Id: rs1381868678
• gnomAD v2: 3-10184563-G-GGAAGAGCC
• gnomAD v3: 3-10142879-G-GGAAGAGCC
• gnomAD v4: 3-10142879-G-GGAAGAGCC
• MyVariant Identifiers: chr3:g.10184563_10184564insGAAGAGCC (hg19) ; chr3:g.10142879_10142880insGAAGAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142882_10142889dup , CM000665.2:g.10142882_10142889dup	GRCh38
NC_000003.11:g.10184566_10184573dup , CM000665.1:g.10184566_10184573dup	GRCh37
NC_000003.10:g.10159566_10159573dup	NCBI36
NG_008212.3:g.6248_6255dup , LRG_322:g.6248_6255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.460_467dup	ENSP00000512434.1:p.Asp156GlufsTer11
ENST00000696143.1:c.460_467dup	ENSP00000512435.1:p.Asp156GlufsTer11
ENST00000696153.1:c.340+695_340+702dup	ENSP00000512444.1:n.340+695_340+702dup
ENST00000256474.3:c.340+695_340+702dup MANE Select	ENSP00000256474.3:n.340+695_340+702dup
ENST00000256474.2:c.340+695_340+702dup	ENSP00000256474.2:n.340+695_340+702dup
ENST00000345392.2:c.340+695_340+702dup	ENSP00000344757.2:n.340+695_340+702dup
ENST00000477538.1:n.337_344dup
NM_000551.3:c.340+695_340+702dup , LRG_322t1:c.340+695_340+702dup	NP_000542.1:n.340+695_340+702dup
NM_198156.2:c.340+695_340+702dup	NP_937799.1:n.340+695_340+702dup
XM_011534078.1:c.460_467dup	XP_011532380.1:p.Asp156GlufsTer11
NM_001354723.1:c.460_467dup	NP_001341652.1:p.Asp156GlufsTer11
NM_000551.4:c.340+695_340+702dup MANE Select	NP_000542.1:n.340+695_340+702dup
NM_001354723.2:c.460_467dup	NP_001341652.1:p.Asp156GlufsTer11
NM_198156.3:c.340+695_340+702dup	NP_937799.1:n.340+695_340+702dup