Canonical Allele Identifier: CA1345069731

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146515_10146517delinsTCA , CM000665.2:g.10146515_10146517delinsTCA	GRCh38
NC_000003.11:g.10188199_10188201delinsTCA , CM000665.1:g.10188199_10188201delinsTCA	GRCh37
NC_000003.10:g.10163199_10163201delinsTCA	NCBI36
NG_008212.3:g.9881_9883delinsTCA , LRG_322:g.9881_9883delinsTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*19_*21delinsTCA	ENSP00000512434.1:n.*19_*21delinsTCA
ENST00000696143.1:c.600-3272_600-3270delinsTCA	ENSP00000512435.1:n.600-3272_600-3270deli...
ENST00000696153.1:c.342_344delinsTCA	ENSP00000512444.1:p.Gly114=
ENST00000256474.3:c.342_344delinsTCA MANE Select	ENSP00000256474.3:p.Gly114=
ENST00000256474.2:c.342_344delinsTCA	ENSP00000256474.2:p.Gly114=
ENST00000345392.2:c.341-3272_341-3270delinsTCA	ENSP00000344757.2:n.341-3272_341-3270deli...
ENST00000477538.1:n.478_480delinsTCA
NM_000551.3:c.342_344delinsTCA , LRG_322t1:c.342_344delinsTCA	NP_000542.1:p.Gly114=
NM_198156.2:c.341-3272_341-3270delinsTCA	NP_937799.1:n.341-3272_341-3270delinsTCA
XM_011534078.1:c.*19_*21delinsTCA	XP_011532380.1:n.*19_*21delinsTCA
NM_001354723.1:c.*18-3272_*18-3270delinsTCA	NP_001341652.1:n.*18-3272_*18-3270delinsT...
NM_000551.4:c.342_344delinsTCA MANE Select	NP_000542.1:p.Gly114=
NM_001354723.2:c.*18-3272_*18-3270delinsTCA	NP_001341652.1:n.*18-3272_*18-3270delinsT...
NM_198156.3:c.341-3272_341-3270delinsTCA	NP_937799.1:n.341-3272_341-3270delinsTCA