Canonical Allele Identifier: CA1345069686
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146450_10146476delinsAGGTGTGGGCCACCGTGCCCAGCCACC , CM000665.2:g.10146450_10146476delinsAGGTGTGGGCCACCGTGCCCAGCCACC GRCh38
NC_000003.11:g.10188134_10188160delinsAGGTGTGGGCCACCGTGCCCAGCCACC , CM000665.1:g.10188134_10188160delinsAGGTGTGGGCCACCGTGCCCAGCCACC GRCh37
NC_000003.10:g.10163134_10163160delinsAGGTGTGGGCCACCGTGCCCAGCCACC NCBI36
NG_008212.3:g.9816_9842delinsAGGTGTGGGCCACCGTGCCCAGCCACC , LRG_322:g.9816_9842delinsAGGTGTGGGCCACCGTGCCCAGCCACC

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*18-64_*18-38delinsAGGTGTGGGCCACCGTGCCCAGCCACC ENSP00000512434.1:n.*18-64_*18-38delinsAG...
ENST00000696143.1:c.600-3337_600-3311delinsAGGTGTGGGCCACCGTGCCCAGCCACC ENSP00000512435.1:n.600-3337_600-3311deli...
ENST00000696153.1:c.341-64_341-38delinsAGGTGTGGGCCACCGTGCCCAGCCACC ENSP00000512444.1:n.341-64_341-38delinsAG...
ENST00000256474.3:c.341-64_341-38delinsAGGTGTGGGCCACCGTGCCCAGCCACC MANE Select ENSP00000256474.3:n.341-64_341-38delinsAG...
ENST00000256474.2:c.341-64_341-38delinsAGGTGTGGGCCACCGTGCCCAGCCACC ENSP00000256474.2:n.341-64_341-38delinsAG...
ENST00000345392.2:c.341-3337_341-3311delinsAGGTGTGGGCCACCGTGCCCAGCCACC ENSP00000344757.2:n.341-3337_341-3311deli...
ENST00000477538.1:n.477-64_477-38delinsAGGTGTGGGCCACCGTGCCCAGCCACC
NM_000551.3:c.341-64_341-38delinsAGGTGTGGGCCACCGTGCCCAGCCACC , LRG_322t1:c.341-64_341-38delinsAGGTGTGGGCCACCGTGCCCAGCCACC NP_000542.1:n.341-64_341-38delinsAGGTGTGG...
NM_198156.2:c.341-3337_341-3311delinsAGGTGTGGGCCACCGTGCCCAGCCACC NP_937799.1:n.341-3337_341-3311delinsAGGT...
XM_011534078.1:c.*18-64_*18-38delinsAGGTGTGGGCCACCGTGCCCAGCCACC XP_011532380.1:n.*18-64_*18-38delinsAGGTG...
NM_001354723.1:c.*18-3337_*18-3311delinsAGGTGTGGGCCACCGTGCCCAGCCACC NP_001341652.1:n.*18-3337_*18-3311delinsA...
NM_000551.4:c.341-64_341-38delinsAGGTGTGGGCCACCGTGCCCAGCCACC MANE Select NP_000542.1:n.341-64_341-38delinsAGGTGTGG...
NM_001354723.2:c.*18-3337_*18-3311delinsAGGTGTGGGCCACCGTGCCCAGCCACC NP_001341652.1:n.*18-3337_*18-3311delinsA...
NM_198156.3:c.341-3337_341-3311delinsAGGTGTGGGCCACCGTGCCCAGCCACC NP_937799.1:n.341-3337_341-3311delinsAGGT...