Canonical Allele Identifier: CA432536126

Gene: VHL

Linked Data

• ClinVar Variation Id: 1313664
• ClinVar RCV Id: RCV001764028
• dbSNP Id: rs1455562175
• gnomAD v2: 3-10183539-G-GGAGGGCGGAGAACTGGGAC
• gnomAD v3: 3-10141855-G-GGAGGGCGGAGAACTGGGAC
• gnomAD v4: 3-10141855-G-GGAGGGCGGAGAACTGGGAC
• MyVariant Identifiers: chr3:g.10183539_10183540insGAGGGCGGAGAACTGGGAC (hg19) ; chr3:g.10141855_10141856insGAGGGCGGAGAACTGGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141860_10141878dup , CM000665.2:g.10141860_10141878dup	GRCh38
NC_000003.11:g.10183544_10183562dup , CM000665.1:g.10183544_10183562dup	GRCh37
NC_000003.10:g.10158544_10158562dup	NCBI36
NG_008212.3:g.5226_5244dup , LRG_322:g.5226_5244dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.13_31dup	ENSP00000512434.1:p.Ala11GlyfsTer22
ENST00000696143.1:c.13_31dup	ENSP00000512435.1:p.Ala11GlyfsTer22
ENST00000696153.1:c.13_31dup	ENSP00000512444.1:p.Ala11GlyfsTer22
ENST00000256474.3:c.13_31dup MANE Select	ENSP00000256474.3:p.Ala11GlyfsTer22
ENST00000256474.2:c.13_31dup	ENSP00000256474.2:p.Ala11GlyfsTer22
ENST00000345392.2:c.13_31dup	ENSP00000344757.2:p.Ala11GlyfsTer22
NM_000551.3:c.13_31dup , LRG_322t1:c.13_31dup	NP_000542.1:p.Ala11GlyfsTer22
NM_198156.2:c.13_31dup	NP_937799.1:p.Ala11GlyfsTer22
XM_011534078.1:c.13_31dup	XP_011532380.1:p.Ala11GlyfsTer22
NM_001354723.1:c.13_31dup	NP_001341652.1:p.Ala11GlyfsTer22
NM_000551.4:c.13_31dup MANE Select	NP_000542.1:p.Ala11GlyfsTer22
NM_001354723.2:c.13_31dup	NP_001341652.1:p.Ala11GlyfsTer22
NM_198156.3:c.13_31dup	NP_937799.1:p.Ala11GlyfsTer22