Canonical Allele Identifier: CA658820719
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146622_10146635del , CM000665.2:g.10146622_10146635del GRCh38
NC_000003.11:g.10188306_10188319del , CM000665.1:g.10188306_10188319del GRCh37
NC_000003.10:g.10163306_10163319del NCBI36
NG_008212.3:g.9988_10001del , LRG_322:g.9988_10001del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*126_*139del ENSP00000512434.1:n.*126_*139del
ENST00000696143.1:c.600-3165_600-3152del ENSP00000512435.1:n.600-3165_600-3152del
ENST00000696153.1:c.449_462del ENSP00000512444.1:p.Asn150ArgfsTer?
ENST00000256474.3:c.449_462del MANE Select ENSP00000256474.3:p.Asn150SerfsTer19
ENST00000256474.2:c.449_462del ENSP00000256474.2:p.Asn150SerfsTer19
ENST00000345392.2:c.341-3165_341-3152del ENSP00000344757.2:n.341-3165_341-3152del
ENST00000477538.1:n.585_598del
NM_000551.3:c.449_462del , LRG_322t1:c.449_462del NP_000542.1:p.Asn150SerfsTer19
NM_198156.2:c.341-3165_341-3152del NP_937799.1:n.341-3165_341-3152del
NM_001354723.1:c.*18-3165_*18-3152del NP_001341652.1:n.*18-3165_*18-3152del
NM_000551.4:c.449_462del MANE Select NP_000542.1:p.Asn150SerfsTer19
NM_001354723.2:c.*18-3165_*18-3152del NP_001341652.1:n.*18-3165_*18-3152del
NM_198156.3:c.341-3165_341-3152del NP_937799.1:n.341-3165_341-3152del