Canonical Allele Identifier: CA432421845

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10188255_10188256insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146571_10146572insA , CM000665.2:g.10146571_10146572insA	GRCh38
NC_000003.11:g.10188255_10188256insA , CM000665.1:g.10188255_10188256insA	GRCh37
NC_000003.10:g.10163255_10163256insA	NCBI36
NG_008212.3:g.9937_9938insA , LRG_322:g.9937_9938insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*75_*76insA	ENSP00000512434.1:n.*75_*76insA
ENST00000696143.1:c.600-3216_600-3215insA	ENSP00000512435.1:n.600-3216_600-3215insA
ENST00000696153.1:c.398_399insA	ENSP00000512444.1:p.Glu134Ter
ENST00000256474.3:c.398_399insA MANE Select	ENSP00000256474.3:p.Glu134Ter
ENST00000256474.2:c.398_399insA	ENSP00000256474.2:p.Glu134Ter
ENST00000345392.2:c.341-3216_341-3215insA	ENSP00000344757.2:n.341-3216_341-3215insA
ENST00000477538.1:n.534_535insA
NM_000551.3:c.398_399insA , LRG_322t1:c.398_399insA	NP_000542.1:p.Glu134Ter
NM_198156.2:c.341-3216_341-3215insA	NP_937799.1:n.341-3216_341-3215insA
XM_011534078.1:c.*75_*76insA	XP_011532380.1:n.*75_*76insA
NM_001354723.1:c.*18-3216_*18-3215insA	NP_001341652.1:n.*18-3216_*18-3215insA
NM_000551.4:c.398_399insA MANE Select	NP_000542.1:p.Glu134Ter
NM_001354723.2:c.*18-3216_*18-3215insA	NP_001341652.1:n.*18-3216_*18-3215insA
NM_198156.3:c.341-3216_341-3215insA	NP_937799.1:n.341-3216_341-3215insA