Canonical Allele Identifier: CA1345065861
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142078_10142079delinsCA , CM000665.2:g.10142078_10142079delinsCA GRCh38
NC_000003.11:g.10183762_10183763delinsCA , CM000665.1:g.10183762_10183763delinsCA GRCh37
NC_000003.10:g.10158762_10158763delinsCA NCBI36
NG_008212.3:g.5444_5445delinsCA , LRG_322:g.5444_5445delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.231_232delinsCA ENSP00000512434.1:p.Cys77=
ENST00000696143.1:c.231_232delinsCA ENSP00000512435.1:p.Cys77=
ENST00000696153.1:c.231_232delinsCA ENSP00000512444.1:p.Cys77=
ENST00000256474.3:c.231_232delinsCA MANE Select ENSP00000256474.3:p.Cys77=
ENST00000256474.2:c.231_232delinsCA ENSP00000256474.2:p.Cys77=
ENST00000345392.2:c.231_232delinsCA ENSP00000344757.2:p.Cys77=
NM_000551.3:c.231_232delinsCA , LRG_322t1:c.231_232delinsCA NP_000542.1:p.Cys77=
NM_198156.2:c.231_232delinsCA NP_937799.1:p.Cys77=
XM_011534078.1:c.231_232delinsCA XP_011532380.1:p.Cys77=
NM_001354723.1:c.231_232delinsCA NP_001341652.1:p.Cys77=
NM_000551.4:c.231_232delinsCA MANE Select NP_000542.1:p.Cys77=
NM_001354723.2:c.231_232delinsCA NP_001341652.1:p.Cys77=
NM_198156.3:c.231_232delinsCA NP_937799.1:p.Cys77=