Canonical Allele Identifier: CA645524656
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM36357

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142019_10142020delinsTA , CM000665.2:g.10142019_10142020delinsTA GRCh38
NC_000003.11:g.10183703_10183704delinsTA , CM000665.1:g.10183703_10183704delinsTA GRCh37
NC_000003.10:g.10158703_10158704delinsTA NCBI36
NG_008212.3:g.5385_5386delinsTA , LRG_322:g.5385_5386delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.172_173delinsTA ENSP00000512434.1:p.Arg58Ter
ENST00000696143.1:c.172_173delinsTA ENSP00000512435.1:p.Arg58Ter
ENST00000696153.1:c.172_173delinsTA ENSP00000512444.1:p.Arg58Ter
ENST00000256474.3:c.172_173delinsTA MANE Select ENSP00000256474.3:p.Arg58Ter
ENST00000256474.2:c.172_173delinsTA ENSP00000256474.2:p.Arg58Ter
ENST00000345392.2:c.172_173delinsTA ENSP00000344757.2:p.Arg58Ter
NM_000551.3:c.172_173delinsTA , LRG_322t1:c.172_173delinsTA NP_000542.1:p.Arg58Ter
NM_198156.2:c.172_173delinsTA NP_937799.1:p.Arg58Ter
XM_011534078.1:c.172_173delinsTA XP_011532380.1:p.Arg58Ter
NM_001354723.1:c.172_173delinsTA NP_001341652.1:p.Arg58Ter
NM_000551.4:c.172_173delinsTA MANE Select NP_000542.1:p.Arg58Ter
NM_001354723.2:c.172_173delinsTA NP_001341652.1:p.Arg58Ter
NM_198156.3:c.172_173delinsTA NP_937799.1:p.Arg58Ter