Canonical Allele Identifier: CA645524845
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM36362
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142167_10142168delinsCA , CM000665.2:g.10142167_10142168delinsCA GRCh38
NC_000003.11:g.10183851_10183852delinsCA , CM000665.1:g.10183851_10183852delinsCA GRCh37
NC_000003.10:g.10158851_10158852delinsCA NCBI36
NG_008212.3:g.5533_5534delinsCA , LRG_322:g.5533_5534delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.320_321delinsCA ENSP00000512434.1:p.Arg107Pro
ENST00000696143.1:c.320_321delinsCA ENSP00000512435.1:p.Arg107Pro
ENST00000696153.1:c.320_321delinsCA ENSP00000512444.1:p.Arg107Pro
ENST00000256474.3:c.320_321delinsCA MANE Select ENSP00000256474.3:p.Arg107Pro
ENST00000256474.2:c.320_321delinsCA ENSP00000256474.2:p.Arg107Pro
ENST00000345392.2:c.320_321delinsCA ENSP00000344757.2:p.Arg107Pro
NM_000551.3:c.320_321delinsCA , LRG_322t1:c.320_321delinsCA NP_000542.1:p.Arg107Pro
NM_198156.2:c.320_321delinsCA NP_937799.1:p.Arg107Pro
XM_011534078.1:c.320_321delinsCA XP_011532380.1:p.Arg107Pro
NM_001354723.1:c.320_321delinsCA NP_001341652.1:p.Arg107Pro
NM_000551.4:c.320_321delinsCA MANE Select NP_000542.1:p.Arg107Pro
NM_001354723.2:c.320_321delinsCA NP_001341652.1:p.Arg107Pro
NM_198156.3:c.320_321delinsCA NP_937799.1:p.Arg107Pro
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