Canonical Allele Identifier: CA1345065328

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141982_10142005delinsGGAGGAACTGGGCGCCGAGGAGGA , CM000665.2:g.10141982_10142005delinsGGAGGAACTGGGCGCCGAGGAGGA	GRCh38
NC_000003.11:g.10183666_10183689delinsGGAGGAACTGGGCGCCGAGGAGGA , CM000665.1:g.10183666_10183689delinsGGAGGAACTGGGCGCCGAGGAGGA	GRCh37
NC_000003.10:g.10158666_10158689delinsGGAGGAACTGGGCGCCGAGGAGGA	NCBI36
NG_008212.3:g.5348_5371delinsGGAGGAACTGGGCGCCGAGGAGGA , LRG_322:g.5348_5371delinsGGAGGAACTGGGCGCCGAGGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	ENSP00000512434.1:p.Pro45=
ENST00000696143.1:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	ENSP00000512435.1:p.Pro45=
ENST00000696153.1:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	ENSP00000512444.1:p.Pro45=
ENST00000256474.3:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA MANE Select	ENSP00000256474.3:p.Pro45=
ENST00000256474.2:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	ENSP00000256474.2:p.Pro45=
ENST00000345392.2:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	ENSP00000344757.2:p.Pro45=
NM_000551.3:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA , LRG_322t1:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	NP_000542.1:p.Pro45=
NM_198156.2:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	NP_937799.1:p.Pro45=
XM_011534078.1:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	XP_011532380.1:p.Pro45=
NM_001354723.1:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	NP_001341652.1:p.Pro45=
NM_000551.4:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA MANE Select	NP_000542.1:p.Pro45=
NM_001354723.2:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	NP_001341652.1:p.Pro45=
NM_198156.3:c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA	NP_937799.1:p.Pro45=