Canonical Allele Identifier: CA658795179
Gene: VHL HGNC NCBI

Linked Data

CIViC: CA658795179
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146563_10146564del , CM000665.2:g.10146563_10146564del GRCh38
NC_000003.11:g.10188247_10188248del , CM000665.1:g.10188247_10188248del GRCh37
NC_000003.10:g.10163247_10163248del NCBI36
NG_008212.3:g.9929_9930del , LRG_322:g.9929_9930del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*67_*68del ENSP00000512434.1:n.*67_*68del
ENST00000696143.1:c.600-3224_600-3223del ENSP00000512435.1:n.600-3224_600-3223del
ENST00000696153.1:c.390_391del ENSP00000512444.1:p.Asn131ProfsTer3
ENST00000256474.3:c.390_391del MANE Select ENSP00000256474.3:p.Asn131ProfsTer3
ENST00000256474.2:c.390_391del ENSP00000256474.2:p.Asn131ProfsTer3
ENST00000345392.2:c.341-3224_341-3223del ENSP00000344757.2:n.341-3224_341-3223del
ENST00000477538.1:n.526_527del
NM_000551.3:c.390_391del , LRG_322t1:c.390_391del NP_000542.1:p.Asn131ProfsTer3
NM_198156.2:c.341-3224_341-3223del NP_937799.1:n.341-3224_341-3223del
XM_011534078.1:c.*67_*68del XP_011532380.1:n.*67_*68del
NM_001354723.1:c.*18-3224_*18-3223del NP_001341652.1:n.*18-3224_*18-3223del
NM_000551.4:c.390_391del MANE Select NP_000542.1:p.Asn131ProfsTer3
NM_001354723.2:c.*18-3224_*18-3223del NP_001341652.1:n.*18-3224_*18-3223del
NM_198156.3:c.341-3224_341-3223del NP_937799.1:n.341-3224_341-3223del
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