Canonical Allele Identifier: CA913189505

Gene: VHL

Linked Data

• ClinVar Variation Id: 625236
• ClinVar RCV Id: RCV000767255
• dbSNP Id: rs1559426145

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142151_10142152dup , CM000665.2:g.10142151_10142152dup	GRCh38
NC_000003.11:g.10183835_10183836dup , CM000665.1:g.10183835_10183836dup	GRCh37
NC_000003.10:g.10158835_10158836dup	NCBI36
NG_008212.3:g.5517_5518dup , LRG_322:g.5517_5518dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.304_305dup	ENSP00000512434.1:p.Pro103ArgfsTer15
ENST00000696143.1:c.304_305dup	ENSP00000512435.1:p.Pro103ArgfsTer15
ENST00000696153.1:c.304_305dup	ENSP00000512444.1:p.Pro103ArgfsTer?
ENST00000256474.3:c.304_305dup MANE Select	ENSP00000256474.3:p.Pro103ArgfsTer?
ENST00000256474.2:c.304_305dup	ENSP00000256474.2:p.Pro103ArgfsTer?
ENST00000345392.2:c.304_305dup	ENSP00000344757.2:p.Pro103ArgfsTer16
NM_000551.3:c.304_305dup , LRG_322t1:c.304_305dup	NP_000542.1:p.Pro103ArgfsTer?
NM_198156.2:c.304_305dup	NP_937799.1:p.Pro103ArgfsTer16
XM_011534078.1:c.304_305dup	XP_011532380.1:p.Pro103ArgfsTer15
NM_001354723.1:c.304_305dup	NP_001341652.1:p.Pro103ArgfsTer15
NM_000551.4:c.304_305dup MANE Select	NP_000542.1:p.Pro103ArgfsTer?
NM_001354723.2:c.304_305dup	NP_001341652.1:p.Pro103ArgfsTer15
NM_198156.3:c.304_305dup	NP_937799.1:p.Pro103ArgfsTer16