Canonical Allele Identifier: CA2580068485

Gene: VHL

Linked Data

• ClinVar Variation Id: 1746631
• ClinVar RCV Id: RCV002344520

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149852_10149869dup , CM000665.2:g.10149852_10149869dup	GRCh38
NC_000003.11:g.10191536_10191553dup , CM000665.1:g.10191536_10191553dup	GRCh37
NC_000003.10:g.10166536_10166553dup	NCBI36
NG_008212.3:g.13218_13235dup , LRG_322:g.13218_13235dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*206_*223dup	ENSP00000512434.1:n.*206_*223dup
ENST00000696143.1:c.665_682dup	ENSP00000512435.1:n.665_682dup
ENST00000696153.1:c.640_657dup	ENSP00000512444.1:p.Arg219_Ser220insArgLeuAspIleValArg
ENST00000256474.3:c.529_546dup MANE Select	ENSP00000256474.3:p.Arg182_Ser183insArgLeuAspIleValArg
ENST00000256474.2:c.529_546dup	ENSP00000256474.2:p.Arg182_Ser183insArgLeuAspIleValArg
ENST00000345392.2:c.406_423dup	ENSP00000344757.2:p.Arg141_Ser142insArgLeuAspIleValArg
ENST00000477538.1:n.665_682dup
NM_000551.3:c.529_546dup , LRG_322t1:c.529_546dup	NP_000542.1:p.Arg182_Ser183insArgLeuAspIleValArg
NM_198156.2:c.406_423dup	NP_937799.1:p.Arg141_Ser142insArgLeuAspIleValArg
NM_001354723.1:c.*83_*100dup	NP_001341652.1:n.*83_*100dup
NM_000551.4:c.529_546dup MANE Select	NP_000542.1:p.Arg182_Ser183insArgLeuAspIleValArg
NM_001354723.2:c.*83_*100dup	NP_001341652.1:n.*83_*100dup
NM_198156.3:c.406_423dup	NP_937799.1:p.Arg141_Ser142insArgLeuAspIleValArg