Canonical Allele Identifier: CA432423576

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191551_10191552insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149867_10149868insT , CM000665.2:g.10149867_10149868insT	GRCh38
NC_000003.11:g.10191551_10191552insT , CM000665.1:g.10191551_10191552insT	GRCh37
NC_000003.10:g.10166551_10166552insT	NCBI36
NG_008212.3:g.13233_13234insT , LRG_322:g.13233_13234insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*221_*222insT	ENSP00000512434.1:n.*221_*222insT
ENST00000696143.1:c.680_681insT	ENSP00000512435.1:n.680_681insT
ENST00000696153.1:c.655_656insT	ENSP00000512444.1:p.Arg219MetfsTer?
ENST00000256474.3:c.544_545insT MANE Select	ENSP00000256474.3:p.Arg182MetfsTer?
ENST00000256474.2:c.544_545insT	ENSP00000256474.2:p.Arg182MetfsTer?
ENST00000345392.2:c.421_422insT	ENSP00000344757.2:p.Arg141MetfsTer?
ENST00000477538.1:n.680_681insT
NM_000551.3:c.544_545insT , LRG_322t1:c.544_545insT	NP_000542.1:p.Arg182MetfsTer?
NM_198156.2:c.421_422insT	NP_937799.1:p.Arg141MetfsTer?
NM_001354723.1:c.*98_*99insT	NP_001341652.1:n.*98_*99insT
NM_000551.4:c.544_545insT MANE Select	NP_000542.1:p.Arg182MetfsTer?
NM_001354723.2:c.*98_*99insT	NP_001341652.1:n.*98_*99insT
NM_198156.3:c.421_422insT	NP_937799.1:p.Arg141MetfsTer?