Canonical Allele Identifier: CA2499216351

Gene: VHL

Linked Data

• ClinVar Variation Id: 1071196
• ClinVar RCV Id: RCV001383594
• dbSNP Id: rs2125125105

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142091_10142106dup , CM000665.2:g.10142091_10142106dup	GRCh38
NC_000003.11:g.10183775_10183790dup , CM000665.1:g.10183775_10183790dup	GRCh37
NC_000003.10:g.10158775_10158790dup	NCBI36
NG_008212.3:g.5457_5472dup , LRG_322:g.5457_5472dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.244_259dup	ENSP00000512434.1:p.Val87AlafsTer?
ENST00000696143.1:c.244_259dup	ENSP00000512435.1:p.Val87AlafsTer?
ENST00000696153.1:c.244_259dup	ENSP00000512444.1:p.Val87AlafsTer?
ENST00000256474.3:c.244_259dup MANE Select	ENSP00000256474.3:p.Val87AlafsTer?
ENST00000256474.2:c.244_259dup	ENSP00000256474.2:p.Val87AlafsTer?
ENST00000345392.2:c.244_259dup	ENSP00000344757.2:p.Val87AlafsTer?
NM_000551.3:c.244_259dup , LRG_322t1:c.244_259dup	NP_000542.1:p.Val87AlafsTer?
NM_198156.2:c.244_259dup	NP_937799.1:p.Val87AlafsTer?
XM_011534078.1:c.244_259dup	XP_011532380.1:p.Val87AlafsTer?
NM_001354723.1:c.244_259dup	NP_001341652.1:p.Val87AlafsTer?
NM_000551.4:c.244_259dup MANE Select	NP_000542.1:p.Val87AlafsTer?
NM_001354723.2:c.244_259dup	NP_001341652.1:p.Val87AlafsTer?
NM_198156.3:c.244_259dup	NP_937799.1:p.Val87AlafsTer?