Canonical Allele Identifier: CA1345058640

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146578_10146579delinsAT , CM000665.2:g.10146578_10146579delinsAT	GRCh38
NC_000003.11:g.10188262_10188263delinsAT , CM000665.1:g.10188262_10188263delinsAT	GRCh37
NC_000003.10:g.10163262_10163263delinsAT	NCBI36
NG_008212.3:g.9944_9945delinsAT , LRG_322:g.9944_9945delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*82_*83delinsAT	ENSP00000512434.1:n.*82_*83delinsAT
ENST00000696143.1:c.600-3209_600-3208delinsAT	ENSP00000512435.1:n.600-3209_600-3208delinsAT
ENST00000696153.1:c.405_406delinsAT	ENSP00000512444.1:p.Leu135=
ENST00000256474.3:c.405_406delinsAT MANE Select	ENSP00000256474.3:p.Leu135=
ENST00000256474.2:c.405_406delinsAT	ENSP00000256474.2:p.Leu135=
ENST00000345392.2:c.341-3209_341-3208delinsAT	ENSP00000344757.2:n.341-3209_341-3208delinsAT
ENST00000477538.1:n.541_542delinsAT
NM_000551.3:c.405_406delinsAT , LRG_322t1:c.405_406delinsAT	NP_000542.1:p.Leu135=
NM_198156.2:c.341-3209_341-3208delinsAT	NP_937799.1:n.341-3209_341-3208delinsAT
XM_011534078.1:c.*82_*83delinsAT	XP_011532380.1:n.*82_*83delinsAT
NM_001354723.1:c.*18-3209_*18-3208delinsAT	NP_001341652.1:n.*18-3209_*18-3208delinsAT
NM_000551.4:c.405_406delinsAT MANE Select	NP_000542.1:p.Leu135=
NM_001354723.2:c.*18-3209_*18-3208delinsAT	NP_001341652.1:n.*18-3209_*18-3208delinsAT
NM_198156.3:c.341-3209_341-3208delinsAT	NP_937799.1:n.341-3209_341-3208delinsAT