Canonical Allele Identifier: CA2580068376

Gene: VHL

Linked Data

• ClinVar Variation Id: 2446103
• ClinVar RCV Id: RCV003156457 ; RCV003294654
• gnomAD v4: 3-10141833-T-TGGATCGCGGAGGGAATGCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141837_10141857dup , CM000665.2:g.10141837_10141857dup	GRCh38
NC_000003.11:g.10183521_10183541dup , CM000665.1:g.10183521_10183541dup	GRCh37
NC_000003.10:g.10158521_10158541dup	NCBI36
NG_008212.3:g.5203_5223dup , LRG_322:g.5203_5223dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.-11_10dup	ENSP00000512434.1:p.Arg3_Arg4insIleAlaGluGlyMetProArg
ENST00000696153.1:c.-11_10dup	ENSP00000512444.1:p.Arg3_Arg4insIleAlaGluGlyMetProArg
ENST00000256474.3:c.-11_10dup MANE Select	ENSP00000256474.3:p.Arg3_Arg4insIleAlaGluGlyMetProArg
ENST00000256474.2:c.-11_10dup	ENSP00000256474.2:p.Arg3_Arg4insIleAlaGluGlyMetProArg
ENST00000345392.2:c.-11_10dup	ENSP00000344757.2:p.Arg3_Arg4insIleAlaGluGlyMetProArg
NM_000551.3:c.-11_10dup , LRG_322t1:c.-11_10dup	NP_000542.1:p.Arg3_Arg4insIleAlaGluGlyMetProArg
NM_198156.2:c.-11_10dup	NP_937799.1:p.Arg3_Arg4insIleAlaGluGlyMetProArg
XM_011534078.1:c.-11_10dup	XP_011532380.1:p.Arg3_Arg4insIleAlaGluGlyMetProArg
NM_001354723.1:c.-11_10dup	NP_001341652.1:p.Arg3_Arg4insIleAlaGluGlyMetProArg
NM_000551.4:c.-11_10dup MANE Select	NP_000542.1:p.Arg3_Arg4insIleAlaGluGlyMetProArg
NM_001354723.2:c.-11_10dup	NP_001341652.1:p.Arg3_Arg4insIleAlaGluGlyMetProArg
NM_198156.3:c.-11_10dup	NP_937799.1:p.Arg3_Arg4insIleAlaGluGlyMetProArg