Canonical Allele Identifier: CA2573131758

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146599_10146603del , CM000665.2:g.10146599_10146603del	GRCh38
NC_000003.11:g.10188283_10188287del , CM000665.1:g.10188283_10188287del	GRCh37
NC_000003.10:g.10163283_10163287del	NCBI36
NG_008212.3:g.9965_9969del , LRG_322:g.9965_9969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*103_*107del	ENSP00000512434.1:n.*103_*107del
ENST00000696143.1:c.600-3188_600-3184del	ENSP00000512435.1:n.600-3188_600-3184del
ENST00000696153.1:c.426_430del	ENSP00000512444.1:p.Asp143ThrfsTer?
ENST00000256474.3:c.426_430del MANE Select	ENSP00000256474.3:p.Asp143ThrfsTer29
ENST00000256474.2:c.426_430del	ENSP00000256474.2:p.Asp143ThrfsTer29
ENST00000345392.2:c.341-3188_341-3184del	ENSP00000344757.2:n.341-3188_341-3184del
ENST00000477538.1:n.562_566del
NM_000551.3:c.426_430del , LRG_322t1:c.426_430del	NP_000542.1:p.Asp143ThrfsTer29
NM_198156.2:c.341-3188_341-3184del	NP_937799.1:n.341-3188_341-3184del
NM_001354723.1:c.*18-3188_*18-3184del	NP_001341652.1:n.*18-3188_*18-3184del
NM_000551.4:c.426_430del MANE Select	NP_000542.1:p.Asp143ThrfsTer29
NM_001354723.2:c.*18-3188_*18-3184del	NP_001341652.1:n.*18-3188_*18-3184del
NM_198156.3:c.341-3188_341-3184del	NP_937799.1:n.341-3188_341-3184del