Canonical Allele Identifier: CA2573130208

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142162_10142163insAC , CM000665.2:g.10142162_10142163insAC	GRCh38
NC_000003.11:g.10183846_10183847insAC , CM000665.1:g.10183846_10183847insAC	GRCh37
NC_000003.10:g.10158846_10158847insAC	NCBI36
NG_008212.3:g.5528_5529insAC , LRG_322:g.5528_5529insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.315_316insAC	ENSP00000512434.1:p.Gly106ThrfsTer12
ENST00000696143.1:c.315_316insAC	ENSP00000512435.1:p.Gly106ThrfsTer12
ENST00000696153.1:c.315_316insAC	ENSP00000512444.1:p.Gly106ThrfsTer?
ENST00000256474.3:c.315_316insAC MANE Select	ENSP00000256474.3:p.Gly106ThrfsTer?
ENST00000256474.2:c.315_316insAC	ENSP00000256474.2:p.Gly106ThrfsTer?
ENST00000345392.2:c.315_316insAC	ENSP00000344757.2:p.Gly106ThrfsTer13
NM_000551.3:c.315_316insAC , LRG_322t1:c.315_316insAC	NP_000542.1:p.Gly106ThrfsTer?
NM_198156.2:c.315_316insAC	NP_937799.1:p.Gly106ThrfsTer13
XM_011534078.1:c.315_316insAC	XP_011532380.1:p.Gly106ThrfsTer12
NM_001354723.1:c.315_316insAC	NP_001341652.1:p.Gly106ThrfsTer12
NM_000551.4:c.315_316insAC MANE Select	NP_000542.1:p.Gly106ThrfsTer?
NM_001354723.2:c.315_316insAC	NP_001341652.1:p.Gly106ThrfsTer12
NM_198156.3:c.315_316insAC	NP_937799.1:p.Gly106ThrfsTer13