Canonical Allele Identifier: CA1345064738
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141850_10141851delinsGC , CM000665.2:g.10141850_10141851delinsGC GRCh38
NC_000003.11:g.10183534_10183535delinsGC , CM000665.1:g.10183534_10183535delinsGC GRCh37
NC_000003.10:g.10158534_10158535delinsGC NCBI36
NG_008212.3:g.5216_5217delinsGC , LRG_322:g.5216_5217delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.3_4delinsGC ENSP00000512434.1:p.Met1=
ENST00000696143.1:c.3_4delinsGC ENSP00000512435.1:p.Met1=
ENST00000696153.1:c.3_4delinsGC ENSP00000512444.1:p.Met1=
ENST00000256474.3:c.3_4delinsGC MANE Select ENSP00000256474.3:p.Met1=
ENST00000256474.2:c.3_4delinsGC ENSP00000256474.2:p.Met1=
ENST00000345392.2:c.3_4delinsGC ENSP00000344757.2:p.Met1=
NM_000551.3:c.3_4delinsGC , LRG_322t1:c.3_4delinsGC NP_000542.1:p.Met1=
NM_198156.2:c.3_4delinsGC NP_937799.1:p.Met1=
XM_011534078.1:c.3_4delinsGC XP_011532380.1:p.Met1=
NM_001354723.1:c.3_4delinsGC NP_001341652.1:p.Met1=
NM_000551.4:c.3_4delinsGC MANE Select NP_000542.1:p.Met1=
NM_001354723.2:c.3_4delinsGC NP_001341652.1:p.Met1=
NM_198156.3:c.3_4delinsGC NP_937799.1:p.Met1=