Canonical Allele Identifier: CA1345062480

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149849_10149856delinsAGGAGACT , CM000665.2:g.10149849_10149856delinsAGGAGACT	GRCh38
NC_000003.11:g.10191533_10191540delinsAGGAGACT , CM000665.1:g.10191533_10191540delinsAGGAGACT	GRCh37
NC_000003.10:g.10166533_10166540delinsAGGAGACT	NCBI36
NG_008212.3:g.13215_13222delinsAGGAGACT , LRG_322:g.13215_13222delinsAGGAGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*203_*210delinsAGGAGACT	ENSP00000512434.1:n.*203_*210delinsAGGAGACT
ENST00000696143.1:c.662_669delinsAGGAGACT	ENSP00000512435.1:n.662_669delinsAGGAGACT
ENST00000696153.1:c.637_644delinsAGGAGACT	ENSP00000512444.1:p.Arg213=
ENST00000256474.3:c.526_533delinsAGGAGACT MANE Select	ENSP00000256474.3:p.Arg176=
ENST00000256474.2:c.526_533delinsAGGAGACT	ENSP00000256474.2:p.Arg176=
ENST00000345392.2:c.403_410delinsAGGAGACT	ENSP00000344757.2:p.Arg135=
ENST00000477538.1:n.662_669delinsAGGAGACT
NM_000551.3:c.526_533delinsAGGAGACT , LRG_322t1:c.526_533delinsAGGAGACT	NP_000542.1:p.Arg176=
NM_198156.2:c.403_410delinsAGGAGACT	NP_937799.1:p.Arg135=
NM_001354723.1:c.*80_*87delinsAGGAGACT	NP_001341652.1:n.*80_*87delinsAGGAGACT
NM_000551.4:c.526_533delinsAGGAGACT MANE Select	NP_000542.1:p.Arg176=
NM_001354723.2:c.*80_*87delinsAGGAGACT	NP_001341652.1:n.*80_*87delinsAGGAGACT
NM_198156.3:c.403_410delinsAGGAGACT	NP_937799.1:p.Arg135=