Canonical Allele Identifier: CA2573106137

Gene: VHL

Linked Data

• ClinVar Variation Id: 2203305
• ClinVar RCV Id: RCV002651638

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142177_10142178delinsTT , CM000665.2:g.10142177_10142178delinsTT	GRCh38
NC_000003.11:g.10183861_10183862delinsTT , CM000665.1:g.10183861_10183862delinsTT	GRCh37
NC_000003.10:g.10158861_10158862delinsTT	NCBI36
NG_008212.3:g.5543_5544delinsTT , LRG_322:g.5543_5544delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.330_331delinsTT	ENSP00000512434.1:p.Ser111Cys
ENST00000696143.1:c.330_331delinsTT	ENSP00000512435.1:p.Ser111Cys
ENST00000696153.1:c.330_331delinsTT	ENSP00000512444.1:p.Ser111Cys
ENST00000256474.3:c.330_331delinsTT MANE Select	ENSP00000256474.3:p.Ser111Cys
ENST00000256474.2:c.330_331delinsTT	ENSP00000256474.2:p.Ser111Cys
ENST00000345392.2:c.330_331delinsTT	ENSP00000344757.2:p.Ser111Cys
NM_000551.3:c.330_331delinsTT , LRG_322t1:c.330_331delinsTT	NP_000542.1:p.Ser111Cys
NM_198156.2:c.330_331delinsTT	NP_937799.1:p.Ser111Cys
XM_011534078.1:c.330_331delinsTT	XP_011532380.1:p.Ser111Cys
NM_001354723.1:c.330_331delinsTT	NP_001341652.1:p.Ser111Cys
NM_000551.4:c.330_331delinsTT MANE Select	NP_000542.1:p.Ser111Cys
NM_001354723.2:c.330_331delinsTT	NP_001341652.1:p.Ser111Cys
NM_198156.3:c.330_331delinsTT	NP_937799.1:p.Ser111Cys