Canonical Allele Identifier: CA432423842

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191604_10191605insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149920_10149921insA , CM000665.2:g.10149920_10149921insA	GRCh38
NC_000003.11:g.10191604_10191605insA , CM000665.1:g.10191604_10191605insA	GRCh37
NC_000003.10:g.10166604_10166605insA	NCBI36
NG_008212.3:g.13286_13287insA , LRG_322:g.13286_13287insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*274_*275insA	ENSP00000512434.1:n.*274_*275insA
ENST00000696143.1:c.733_734insA	ENSP00000512435.1:n.733_734insA
ENST00000696153.1:c.708_709insA	ENSP00000512444.1:p.Arg237ThrfsTer?
ENST00000256474.3:c.597_598insA MANE Select	ENSP00000256474.3:p.Arg200ThrfsTer?
ENST00000256474.2:c.597_598insA	ENSP00000256474.2:p.Arg200ThrfsTer?
ENST00000345392.2:c.474_475insA	ENSP00000344757.2:p.Arg159ThrfsTer?
ENST00000477538.1:n.733_734insA
NM_000551.3:c.597_598insA , LRG_322t1:c.597_598insA	NP_000542.1:p.Arg200ThrfsTer?
NM_198156.2:c.474_475insA	NP_937799.1:p.Arg159ThrfsTer?
NM_001354723.1:c.*151_*152insA	NP_001341652.1:n.*151_*152insA
NM_000551.4:c.597_598insA MANE Select	NP_000542.1:p.Arg200ThrfsTer?
NM_001354723.2:c.*151_*152insA	NP_001341652.1:n.*151_*152insA
NM_198156.3:c.474_475insA	NP_937799.1:p.Arg159ThrfsTer?