Canonical Allele Identifier: CA2740090894

Gene: VHL

Linked Data

• ClinVar Variation Id: 2921844
• ClinVar RCV Id: RCV003782866

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146545_10146548del , CM000665.2:g.10146545_10146548del	GRCh38
NC_000003.11:g.10188229_10188232del , CM000665.1:g.10188229_10188232del	GRCh37
NC_000003.10:g.10163229_10163232del	NCBI36
NG_008212.3:g.9911_9914del , LRG_322:g.9911_9914del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*49_*52del	ENSP00000512434.1:n.*49_*52del
ENST00000696143.1:c.600-3242_600-3239del	ENSP00000512435.1:n.600-3242_600-3239del
ENST00000696153.1:c.372_375del	ENSP00000512444.1:p.His125MetfsTer?
ENST00000256474.3:c.372_375del MANE Select	ENSP00000256474.3:p.His125MetfsTer?
ENST00000256474.2:c.372_375del	ENSP00000256474.2:p.His125MetfsTer?
ENST00000345392.2:c.341-3242_341-3239del	ENSP00000344757.2:n.341-3242_341-3239del
ENST00000477538.1:n.508_511del
NM_000551.3:c.372_375del , LRG_322t1:c.372_375del	NP_000542.1:p.His125MetfsTer?
NM_198156.2:c.341-3242_341-3239del	NP_937799.1:n.341-3242_341-3239del
XM_011534078.1:c.*49_*52del	XP_011532380.1:n.*49_*52del
NM_001354723.1:c.*18-3242_*18-3239del	NP_001341652.1:n.*18-3242_*18-3239del
NM_000551.4:c.372_375del MANE Select	NP_000542.1:p.His125MetfsTer?
NM_001354723.2:c.*18-3242_*18-3239del	NP_001341652.1:n.*18-3242_*18-3239del
NM_198156.3:c.341-3242_341-3239del	NP_937799.1:n.341-3242_341-3239del