Canonical Allele Identifier: CA1345066230
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142137_10142149delinsCCTACCCAACGCT , CM000665.2:g.10142137_10142149delinsCCTACCCAACGCT GRCh38
NC_000003.11:g.10183821_10183833delinsCCTACCCAACGCT , CM000665.1:g.10183821_10183833delinsCCTACCCAACGCT GRCh37
NC_000003.10:g.10158821_10158833delinsCCTACCCAACGCT NCBI36
NG_008212.3:g.5503_5515delinsCCTACCCAACGCT , LRG_322:g.5503_5515delinsCCTACCCAACGCT

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.290_302delinsCCTACCCAACGCT ENSP00000512434.1:p.Pro97=
ENST00000696143.1:c.290_302delinsCCTACCCAACGCT ENSP00000512435.1:p.Pro97=
ENST00000696153.1:c.290_302delinsCCTACCCAACGCT ENSP00000512444.1:p.Pro97=
ENST00000256474.3:c.290_302delinsCCTACCCAACGCT MANE Select ENSP00000256474.3:p.Pro97=
ENST00000256474.2:c.290_302delinsCCTACCCAACGCT ENSP00000256474.2:p.Pro97=
ENST00000345392.2:c.290_302delinsCCTACCCAACGCT ENSP00000344757.2:p.Pro97=
NM_000551.3:c.290_302delinsCCTACCCAACGCT , LRG_322t1:c.290_302delinsCCTACCCAACGCT NP_000542.1:p.Pro97=
NM_198156.2:c.290_302delinsCCTACCCAACGCT NP_937799.1:p.Pro97=
XM_011534078.1:c.290_302delinsCCTACCCAACGCT XP_011532380.1:p.Pro97=
NM_001354723.1:c.290_302delinsCCTACCCAACGCT NP_001341652.1:p.Pro97=
NM_000551.4:c.290_302delinsCCTACCCAACGCT MANE Select NP_000542.1:p.Pro97=
NM_001354723.2:c.290_302delinsCCTACCCAACGCT NP_001341652.1:p.Pro97=
NM_198156.3:c.290_302delinsCCTACCCAACGCT NP_937799.1:p.Pro97=