Canonical Allele Identifier: CA2573136196

Gene: VHL

Linked Data

• ClinVar Variation Id: 1360415
• ClinVar RCV Id: RCV001904882
• dbSNP Id: rs2125130871

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149953del , CM000665.2:g.10149953del	GRCh38
NC_000003.11:g.10191637del , CM000665.1:g.10191637del	GRCh37
NC_000003.10:g.10166637del	NCBI36
NG_008212.3:g.13319del , LRG_322:g.13319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*307del	ENSP00000512434.1:n.*307del
ENST00000696143.1:c.766del	ENSP00000512435.1:n.766del
ENST00000696153.1:c.741del	ENSP00000512444.1:p.Met248TrpfsTer8
ENST00000256474.3:c.630del MANE Select	ENSP00000256474.3:p.Met211TrpfsTer8
ENST00000256474.2:c.630del	ENSP00000256474.2:p.Met211TrpfsTer8
ENST00000345392.2:c.507del	ENSP00000344757.2:p.Met170TrpfsTer8
ENST00000477538.1:n.766del
NM_000551.3:c.630del , LRG_322t1:c.630del	NP_000542.1:p.Met211TrpfsTer8
NM_198156.2:c.507del	NP_937799.1:p.Met170TrpfsTer8
NM_001354723.1:c.*184del	NP_001341652.1:n.*184del
NM_000551.4:c.630del MANE Select	NP_000542.1:p.Met211TrpfsTer8
NM_001354723.2:c.*184del	NP_001341652.1:n.*184del
NM_198156.3:c.507del	NP_937799.1:p.Met170TrpfsTer8