Canonical Allele Identifier: CA020491

Gene: VHL

Linked Data

• ClinVar Variation Id: 182987
• ClinVar RCV Id: RCV000161097 ; RCV002485005 ; RCV001812139
• dbSNP Id: rs730882038
• gnomAD v2: 3-10183521-T-TCGCGGAGGGAATGC
• gnomAD v3: 3-10141837-T-TCGCGGAGGGAATGC
• gnomAD v4: 3-10141837-T-TCGCGGAGGGAATGC
• MyVariant Identifiers: chr3:g.10183523_10183536dupGCGGAGGGAATGCC (hg19) ; chr3:g.10183521_10183522insCGCGGAGGGAATGC (hg19) ; chr3:g.10141839_10141852dupGCGGAGGGAATGCC (hg38) ; chr3:g.10141837_10141838insCGCGGAGGGAATGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141839_10141852dup , CM000665.2:g.10141839_10141852dup	GRCh38
NC_000003.11:g.10183523_10183536dup , CM000665.1:g.10183523_10183536dup	GRCh37
NC_000003.10:g.10158523_10158536dup	NCBI36
NG_008212.3:g.5205_5218dup , LRG_322:g.5205_5218dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-9_5dup	ENSP00000512434.1:p.Ala5GlufsTer14
ENST00000696153.1:c.-9_5dup	ENSP00000512444.1:p.Ala5GlufsTer14
ENST00000256474.3:c.-9_5dup MANE Select	ENSP00000256474.3:p.Ala5GlufsTer14
ENST00000256474.2:c.-9_5dup	ENSP00000256474.2:p.Ala5GlufsTer14
ENST00000345392.2:c.-9_5dup	ENSP00000344757.2:p.Ala5GlufsTer14
NM_000551.3:c.-9_5dup , LRG_322t1:c.-9_5dup	NP_000542.1:p.Ala5GlufsTer14
NM_198156.2:c.-9_5dup	NP_937799.1:p.Ala5GlufsTer14
XM_011534078.1:c.-9_5dup	XP_011532380.1:p.Ala5GlufsTer14
NM_001354723.1:c.-9_5dup	NP_001341652.1:p.Ala5GlufsTer14
NM_000551.4:c.-9_5dup MANE Select	NP_000542.1:p.Ala5GlufsTer14
NM_001354723.2:c.-9_5dup	NP_001341652.1:p.Ala5GlufsTer14
NM_198156.3:c.-9_5dup	NP_937799.1:p.Ala5GlufsTer14