Canonical Allele Identifier: CA1139655723

Gene: VHL

Linked Data

• ClinVar Variation Id: 949032
• ClinVar RCV Id: RCV001220410
• dbSNP Id: rs1575921303
• gnomAD v4: 3-10141945-CGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141959_10142003del , CM000665.2:g.10141959_10142003del	GRCh38
NC_000003.11:g.10183643_10183687del , CM000665.1:g.10183643_10183687del	GRCh37
NC_000003.10:g.10158643_10158687del	NCBI36
NG_008212.3:g.5325_5369del , LRG_322:g.5325_5369del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.112_156del	ENSP00000512434.1:p.Ser38_Glu52del
ENST00000696143.1:c.112_156del	ENSP00000512435.1:p.Ser38_Glu52del
ENST00000696153.1:c.112_156del	ENSP00000512444.1:p.Ser38_Glu52del
ENST00000256474.3:c.112_156del MANE Select	ENSP00000256474.3:p.Ser38_Glu52del
ENST00000256474.2:c.112_156del	ENSP00000256474.2:p.Ser38_Glu52del
ENST00000345392.2:c.112_156del	ENSP00000344757.2:p.Ser38_Glu52del
NM_000551.3:c.112_156del , LRG_322t1:c.112_156del	NP_000542.1:p.Ser38_Glu52del
NM_198156.2:c.112_156del	NP_937799.1:p.Ser38_Glu52del
XM_011534078.1:c.112_156del	XP_011532380.1:p.Ser38_Glu52del
NM_001354723.1:c.112_156del	NP_001341652.1:p.Ser38_Glu52del
NM_000551.4:c.112_156del MANE Select	NP_000542.1:p.Ser38_Glu52del
NM_001354723.2:c.112_156del	NP_001341652.1:p.Ser38_Glu52del
NM_198156.3:c.112_156del	NP_937799.1:p.Ser38_Glu52del