Canonical Allele Identifier: CA1345062496

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149853_10149865delinsGACTGGACATCGT , CM000665.2:g.10149853_10149865delinsGACTGGACATCGT	GRCh38
NC_000003.11:g.10191537_10191549delinsGACTGGACATCGT , CM000665.1:g.10191537_10191549delinsGACTGGACATCGT	GRCh37
NC_000003.10:g.10166537_10166549delinsGACTGGACATCGT	NCBI36
NG_008212.3:g.13219_13231delinsGACTGGACATCGT , LRG_322:g.13219_13231delinsGACTGGACATCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*207_*219delinsGACTGGACATCGT	ENSP00000512434.1:n.*207_*219delinsGACTGGACATCGT
ENST00000696143.1:c.666_678delinsGACTGGACATCGT	ENSP00000512435.1:n.666_678delinsGACTGGACATCGT
ENST00000696153.1:c.641_653delinsGACTGGACATCGT	ENSP00000512444.1:p.Arg214=
ENST00000256474.3:c.530_542delinsGACTGGACATCGT MANE Select	ENSP00000256474.3:p.Arg177=
ENST00000256474.2:c.530_542delinsGACTGGACATCGT	ENSP00000256474.2:p.Arg177=
ENST00000345392.2:c.407_419delinsGACTGGACATCGT	ENSP00000344757.2:p.Arg136=
ENST00000477538.1:n.666_678delinsGACTGGACATCGT
NM_000551.3:c.530_542delinsGACTGGACATCGT , LRG_322t1:c.530_542delinsGACTGGACATCGT	NP_000542.1:p.Arg177=
NM_198156.2:c.407_419delinsGACTGGACATCGT	NP_937799.1:p.Arg136=
NM_001354723.1:c.*84_*96delinsGACTGGACATCGT	NP_001341652.1:n.*84_*96delinsGACTGGACATCGT
NM_000551.4:c.530_542delinsGACTGGACATCGT MANE Select	NP_000542.1:p.Arg177=
NM_001354723.2:c.*84_*96delinsGACTGGACATCGT	NP_001341652.1:n.*84_*96delinsGACTGGACATCGT
NM_198156.3:c.407_419delinsGACTGGACATCGT	NP_937799.1:p.Arg136=