Canonical Allele Identifier: CA1345058674

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146584_10146585delinsGC , CM000665.2:g.10146584_10146585delinsGC	GRCh38
NC_000003.11:g.10188268_10188269delinsGC , CM000665.1:g.10188268_10188269delinsGC	GRCh37
NC_000003.10:g.10163268_10163269delinsGC	NCBI36
NG_008212.3:g.9950_9951delinsGC , LRG_322:g.9950_9951delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*88_*89delinsGC	ENSP00000512434.1:n.*88_*89delinsGC
ENST00000696143.1:c.600-3203_600-3202delinsGC	ENSP00000512435.1:n.600-3203_600-3202delinsGC
ENST00000696153.1:c.411_412delinsGC	ENSP00000512444.1:p.Val137=
ENST00000256474.3:c.411_412delinsGC MANE Select	ENSP00000256474.3:p.Val137=
ENST00000256474.2:c.411_412delinsGC	ENSP00000256474.2:p.Val137=
ENST00000345392.2:c.341-3203_341-3202delinsGC	ENSP00000344757.2:n.341-3203_341-3202delinsGC
ENST00000477538.1:n.547_548delinsGC
NM_000551.3:c.411_412delinsGC , LRG_322t1:c.411_412delinsGC	NP_000542.1:p.Val137=
NM_198156.2:c.341-3203_341-3202delinsGC	NP_937799.1:n.341-3203_341-3202delinsGC
XM_011534078.1:c.*88_*89delinsGC	XP_011532380.1:n.*88_*89delinsGC
NM_001354723.1:c.*18-3203_*18-3202delinsGC	NP_001341652.1:n.*18-3203_*18-3202delinsGC
NM_000551.4:c.411_412delinsGC MANE Select	NP_000542.1:p.Val137=
NM_001354723.2:c.*18-3203_*18-3202delinsGC	NP_001341652.1:n.*18-3203_*18-3202delinsGC
NM_198156.3:c.341-3203_341-3202delinsGC	NP_937799.1:n.341-3203_341-3202delinsGC