Canonical Allele Identifier: CA432421801

Gene: VHL

Linked Data

• COSMIC: COSM18281
• MyVariant Identifiers: chr3:g.10188217_10188218insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146533dup , CM000665.2:g.10146533dup	GRCh38
NC_000003.11:g.10188217dup , CM000665.1:g.10188217dup	GRCh37
NC_000003.10:g.10163217dup	NCBI36
NG_008212.3:g.9899dup , LRG_322:g.9899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*37dup	ENSP00000512434.1:n.*37dup
ENST00000696143.1:c.600-3254dup	ENSP00000512435.1:n.600-3254dup
ENST00000696153.1:c.360dup	ENSP00000512444.1:p.Asp121ArgfsTer11
ENST00000256474.3:c.360dup MANE Select	ENSP00000256474.3:p.Asp121ArgfsTer11
ENST00000256474.2:c.360dup	ENSP00000256474.2:p.Asp121ArgfsTer11
ENST00000345392.2:c.341-3254dup	ENSP00000344757.2:n.341-3254dup
ENST00000477538.1:n.496dup
NM_000551.3:c.360dup , LRG_322t1:c.360dup	NP_000542.1:p.Asp121ArgfsTer11
NM_198156.2:c.341-3254dup	NP_937799.1:n.341-3254dup
XM_011534078.1:c.*37dup	XP_011532380.1:n.*37dup
NM_001354723.1:c.*18-3254dup	NP_001341652.1:n.*18-3254dup
NM_000551.4:c.360dup MANE Select	NP_000542.1:p.Asp121ArgfsTer11
NM_001354723.2:c.*18-3254dup	NP_001341652.1:n.*18-3254dup
NM_198156.3:c.341-3254dup	NP_937799.1:n.341-3254dup