Canonical Allele Identifier: CA645524807
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM17709

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142130_10142144del , CM000665.2:g.10142130_10142144del GRCh38
NC_000003.11:g.10183814_10183828del , CM000665.1:g.10183814_10183828del GRCh37
NC_000003.10:g.10158814_10158828del NCBI36
NG_008212.3:g.5496_5510del , LRG_322:g.5496_5510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.283_297del ENSP00000512434.1:p.Pro95_Pro99del
ENST00000696143.1:c.283_297del ENSP00000512435.1:p.Pro95_Pro99del
ENST00000696153.1:c.283_297del ENSP00000512444.1:p.Pro95_Pro99del
ENST00000256474.3:c.283_297del MANE Select ENSP00000256474.3:p.Pro95_Pro99del
ENST00000256474.2:c.283_297del ENSP00000256474.2:p.Pro95_Pro99del
ENST00000345392.2:c.283_297del ENSP00000344757.2:p.Pro95_Pro99del
NM_000551.3:c.283_297del , LRG_322t1:c.283_297del NP_000542.1:p.Pro95_Pro99del
NM_198156.2:c.283_297del NP_937799.1:p.Pro95_Pro99del
XM_011534078.1:c.283_297del XP_011532380.1:p.Pro95_Pro99del
NM_001354723.1:c.283_297del NP_001341652.1:p.Pro95_Pro99del
NM_000551.4:c.283_297del MANE Select NP_000542.1:p.Pro95_Pro99del
NM_001354723.2:c.283_297del NP_001341652.1:p.Pro95_Pro99del
NM_198156.3:c.283_297del NP_937799.1:p.Pro95_Pro99del