Canonical Allele Identifier: CA16617778

Gene: VHL

Linked Data

• ClinVar Variation Id: 423088
• ClinVar RCV Id: RCV000479586
• dbSNP Id: rs1553619276
• MyVariant Identifiers: chr3:g.10183547_10183565dup19 (hg19) ; chr3:g.10141863_10141881dup19 (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141863_10141881dup , CM000665.2:g.10141863_10141881dup	GRCh38
NC_000003.11:g.10183547_10183565dup , CM000665.1:g.10183547_10183565dup	GRCh37
NC_000003.10:g.10158547_10158565dup	NCBI36
NG_008212.3:g.5229_5247dup , LRG_322:g.5229_5247dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.16_34dup	ENSP00000512434.1:p.Glu12GlyfsTer21
ENST00000696143.1:c.16_34dup	ENSP00000512435.1:p.Glu12GlyfsTer21
ENST00000696153.1:c.16_34dup	ENSP00000512444.1:p.Glu12GlyfsTer21
ENST00000256474.3:c.16_34dup MANE Select	ENSP00000256474.3:p.Glu12GlyfsTer21
ENST00000256474.2:c.16_34dup	ENSP00000256474.2:p.Glu12GlyfsTer21
ENST00000345392.2:c.16_34dup	ENSP00000344757.2:p.Glu12GlyfsTer21
NM_000551.3:c.16_34dup , LRG_322t1:c.16_34dup	NP_000542.1:p.Glu12GlyfsTer21
NM_198156.2:c.16_34dup	NP_937799.1:p.Glu12GlyfsTer21
XM_011534078.1:c.16_34dup	XP_011532380.1:p.Glu12GlyfsTer21
NM_001354723.1:c.16_34dup	NP_001341652.1:p.Glu12GlyfsTer21
NM_000551.4:c.16_34dup MANE Select	NP_000542.1:p.Glu12GlyfsTer21
NM_001354723.2:c.16_34dup	NP_001341652.1:p.Glu12GlyfsTer21
NM_198156.3:c.16_34dup	NP_937799.1:p.Glu12GlyfsTer21