Canonical Allele Identifier: CA2573136080

Gene: VHL

Linked Data

• ClinVar Variation Id: 1421024
• ClinVar RCV Id: RCV001916725 ; RCV002269379
• dbSNP Id: rs2125124691

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141944del , CM000665.2:g.10141944del	GRCh38
NC_000003.11:g.10183628del , CM000665.1:g.10183628del	GRCh37
NC_000003.10:g.10158628del	NCBI36
NG_008212.3:g.5310del , LRG_322:g.5310del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.97del	ENSP00000512434.1:p.Ser33ArgfsTer?
ENST00000696143.1:c.97del	ENSP00000512435.1:p.Ser33ArgfsTer?
ENST00000696153.1:c.97del	ENSP00000512444.1:p.Ser33ArgfsTer?
ENST00000256474.3:c.97del MANE Select	ENSP00000256474.3:p.Ser33ArgfsTer?
ENST00000256474.2:c.97del	ENSP00000256474.2:p.Ser33ArgfsTer?
ENST00000345392.2:c.97del	ENSP00000344757.2:p.Ser33ArgfsTer?
NM_000551.3:c.97del , LRG_322t1:c.97del	NP_000542.1:p.Ser33ArgfsTer?
NM_198156.2:c.97del	NP_937799.1:p.Ser33ArgfsTer?
XM_011534078.1:c.97del	XP_011532380.1:p.Ser33ArgfsTer?
NM_001354723.1:c.97del	NP_001341652.1:p.Ser33ArgfsTer?
NM_000551.4:c.97del MANE Select	NP_000542.1:p.Ser33ArgfsTer?
NM_001354723.2:c.97del	NP_001341652.1:p.Ser33ArgfsTer?
NM_198156.3:c.97del	NP_937799.1:p.Ser33ArgfsTer?