Canonical Allele Identifier: CA1345066429

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142163_10142166delinsGGCC , CM000665.2:g.10142163_10142166delinsGGCC	GRCh38
NC_000003.11:g.10183847_10183850delinsGGCC , CM000665.1:g.10183847_10183850delinsGGCC	GRCh37
NC_000003.10:g.10158847_10158850delinsGGCC	NCBI36
NG_008212.3:g.5529_5532delinsGGCC , LRG_322:g.5529_5532delinsGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.316_319delinsGGCC	ENSP00000512434.1:p.Gly106=
ENST00000696143.1:c.316_319delinsGGCC	ENSP00000512435.1:p.Gly106=
ENST00000696153.1:c.316_319delinsGGCC	ENSP00000512444.1:p.Gly106=
ENST00000256474.3:c.316_319delinsGGCC MANE Select	ENSP00000256474.3:p.Gly106=
ENST00000256474.2:c.316_319delinsGGCC	ENSP00000256474.2:p.Gly106=
ENST00000345392.2:c.316_319delinsGGCC	ENSP00000344757.2:p.Gly106=
NM_000551.3:c.316_319delinsGGCC , LRG_322t1:c.316_319delinsGGCC	NP_000542.1:p.Gly106=
NM_198156.2:c.316_319delinsGGCC	NP_937799.1:p.Gly106=
XM_011534078.1:c.316_319delinsGGCC	XP_011532380.1:p.Gly106=
NM_001354723.1:c.316_319delinsGGCC	NP_001341652.1:p.Gly106=
NM_000551.4:c.316_319delinsGGCC MANE Select	NP_000542.1:p.Gly106=
NM_001354723.2:c.316_319delinsGGCC	NP_001341652.1:p.Gly106=
NM_198156.3:c.316_319delinsGGCC	NP_937799.1:p.Gly106=