Canonical Allele Identifier: CA2838255659
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142207del , CM000665.2:g.10142207del GRCh38
NC_000003.11:g.10183891del , CM000665.1:g.10183891del GRCh37
NC_000003.10:g.10158891del NCBI36
NG_008212.3:g.5573del , LRG_322:g.5573del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.340+20del ENSP00000512434.1:n.340+20del
ENST00000696143.1:c.340+20del ENSP00000512435.1:n.340+20del
ENST00000696153.1:c.340+20del ENSP00000512444.1:n.340+20del
ENST00000256474.3:c.340+20del MANE Select ENSP00000256474.3:n.340+20del
ENST00000256474.2:c.340+20del ENSP00000256474.2:n.340+20del
ENST00000345392.2:c.340+20del ENSP00000344757.2:n.340+20del
NM_000551.3:c.340+20del , LRG_322t1:c.340+20del NP_000542.1:n.340+20del
NM_198156.2:c.340+20del NP_937799.1:n.340+20del
XM_011534078.1:c.340+20del XP_011532380.1:n.340+20del
NM_001354723.1:c.340+20del NP_001341652.1:n.340+20del
NM_000551.4:c.340+20del MANE Select NP_000542.1:n.340+20del
NM_001354723.2:c.340+20del NP_001341652.1:n.340+20del
NM_198156.3:c.340+20del NP_937799.1:n.340+20del