Canonical Allele Identifier: CA432420526
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142147_10142148insT , CM000665.2:g.10142147_10142148insT GRCh38
NC_000003.11:g.10183831_10183832insT , CM000665.1:g.10183831_10183832insT GRCh37
NC_000003.10:g.10158831_10158832insT NCBI36
NG_008212.3:g.5513_5514insT , LRG_322:g.5513_5514insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.300_301insT ENSP00000512434.1:p.Leu101SerfsTer?
ENST00000696143.1:c.300_301insT ENSP00000512435.1:p.Leu101SerfsTer?
ENST00000696153.1:c.300_301insT ENSP00000512444.1:p.Leu101SerfsTer?
ENST00000256474.3:c.300_301insT MANE Select ENSP00000256474.3:p.Leu101SerfsTer?
ENST00000256474.2:c.300_301insT ENSP00000256474.2:p.Leu101SerfsTer?
ENST00000345392.2:c.300_301insT ENSP00000344757.2:p.Leu101SerfsTer?
NM_000551.3:c.300_301insT , LRG_322t1:c.300_301insT NP_000542.1:p.Leu101SerfsTer?
NM_198156.2:c.300_301insT NP_937799.1:p.Leu101SerfsTer?
XM_011534078.1:c.300_301insT XP_011532380.1:p.Leu101SerfsTer?
NM_001354723.1:c.300_301insT NP_001341652.1:p.Leu101SerfsTer?
NM_000551.4:c.300_301insT MANE Select NP_000542.1:p.Leu101SerfsTer?
NM_001354723.2:c.300_301insT NP_001341652.1:p.Leu101SerfsTer?
NM_198156.3:c.300_301insT NP_937799.1:p.Leu101SerfsTer?