Canonical Allele Identifier: CA16621933
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146595_10146613del , CM000665.2:g.10146595_10146613del GRCh38
NC_000003.11:g.10188279_10188297del , CM000665.1:g.10188279_10188297del GRCh37
NC_000003.10:g.10163279_10163297del NCBI36
NG_008212.3:g.9961_9979del , LRG_322:g.9961_9979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*99_*117del ENSP00000512434.1:n.*99_*117del
ENST00000696143.1:c.600-3192_600-3174del ENSP00000512435.1:n.600-3192_600-3174del
ENST00000696153.1:c.422_440del ENSP00000512444.1:p.Asn141IlefsTer22
ENST00000256474.3:c.422_440del MANE Select ENSP00000256474.3:p.Asn141IlefsTer12
ENST00000256474.2:c.422_440del ENSP00000256474.2:p.Asn141IlefsTer12
ENST00000345392.2:c.341-3192_341-3174del ENSP00000344757.2:n.341-3192_341-3174del
ENST00000477538.1:n.558_576del
NM_000551.3:c.422_440del , LRG_322t1:c.422_440del NP_000542.1:p.Asn141IlefsTer12
NM_198156.2:c.341-3192_341-3174del NP_937799.1:n.341-3192_341-3174del
NM_001354723.1:c.*18-3192_*18-3174del NP_001341652.1:n.*18-3192_*18-3174del
NM_000551.4:c.422_440del MANE Select NP_000542.1:p.Asn141IlefsTer12
NM_001354723.2:c.*18-3192_*18-3174del NP_001341652.1:n.*18-3192_*18-3174del
NM_198156.3:c.341-3192_341-3174del NP_937799.1:n.341-3192_341-3174del