Canonical Allele Identifier: CA645524635
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142007_10142021del , CM000665.2:g.10142007_10142021del GRCh38
NC_000003.11:g.10183691_10183705del , CM000665.1:g.10183691_10183705del GRCh37
NC_000003.10:g.10158691_10158705del NCBI36
NG_008212.3:g.5373_5387del , LRG_322:g.5373_5387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.160_174del ENSP00000512434.1:p.Met54_Arg58del
ENST00000696143.1:c.160_174del ENSP00000512435.1:p.Met54_Arg58del
ENST00000696153.1:c.160_174del ENSP00000512444.1:p.Met54_Arg58del
ENST00000256474.3:c.160_174del MANE Select ENSP00000256474.3:p.Met54_Arg58del
ENST00000256474.2:c.160_174del ENSP00000256474.2:p.Met54_Arg58del
ENST00000345392.2:c.160_174del ENSP00000344757.2:p.Met54_Arg58del
NM_000551.3:c.160_174del , LRG_322t1:c.160_174del NP_000542.1:p.Met54_Arg58del
NM_198156.2:c.160_174del NP_937799.1:p.Met54_Arg58del
XM_011534078.1:c.160_174del XP_011532380.1:p.Met54_Arg58del
NM_001354723.1:c.160_174del NP_001341652.1:p.Met54_Arg58del
NM_000551.4:c.160_174del MANE Select NP_000542.1:p.Met54_Arg58del
NM_001354723.2:c.160_174del NP_001341652.1:p.Met54_Arg58del
NM_198156.3:c.160_174del NP_937799.1:p.Met54_Arg58del