Canonical Allele Identifier: CA1345063008

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149934_10149936delinsAGC , CM000665.2:g.10149934_10149936delinsAGC	GRCh38
NC_000003.11:g.10191618_10191620delinsAGC , CM000665.1:g.10191618_10191620delinsAGC	GRCh37
NC_000003.10:g.10166618_10166620delinsAGC	NCBI36
NG_008212.3:g.13300_13302delinsAGC , LRG_322:g.13300_13302delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*288_*290delinsAGC	ENSP00000512434.1:n.*288_*290delinsAGC
ENST00000696143.1:c.747_749delinsAGC	ENSP00000512435.1:n.747_749delinsAGC
ENST00000696153.1:c.722_724delinsAGC	ENSP00000512444.1:p.Glu241=
ENST00000256474.3:c.611_613delinsAGC MANE Select	ENSP00000256474.3:p.Glu204=
ENST00000256474.2:c.611_613delinsAGC	ENSP00000256474.2:p.Glu204=
ENST00000345392.2:c.488_490delinsAGC	ENSP00000344757.2:p.Glu163=
ENST00000477538.1:n.747_749delinsAGC
NM_000551.3:c.611_613delinsAGC , LRG_322t1:c.611_613delinsAGC	NP_000542.1:p.Glu204=
NM_198156.2:c.488_490delinsAGC	NP_937799.1:p.Glu163=
NM_001354723.1:c.*165_*167delinsAGC	NP_001341652.1:n.*165_*167delinsAGC
NM_000551.4:c.611_613delinsAGC MANE Select	NP_000542.1:p.Glu204=
NM_001354723.2:c.*165_*167delinsAGC	NP_001341652.1:n.*165_*167delinsAGC
NM_198156.3:c.488_490delinsAGC	NP_937799.1:p.Glu163=