Canonical Allele Identifier: CA1139666607
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 962897
ClinVar RCV Id: RCV001236831
dbSNP Id: rs2085712282

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154142_55154147dup , CM000681.2:g.55154142_55154147dup GRCh38
NC_000019.9:g.55665510_55665515dup , CM000681.1:g.55665510_55665515dup GRCh37
NC_000019.8:g.60357322_60357327dup NCBI36
NG_007866.2:g.8586_8591dup , LRG_432:g.8586_8591dup
NG_011829.2:g.92_97dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.432_437dup MANE Select ENSP00000341838.5:p.Arg146_Val147insArgArg
ENST00000665070.1:c.465_470dup ENSP00000499482.1:p.Arg157_Val158insArgArg
ENST00000344887.9:c.432_437dup ENSP00000341838.5:p.Arg146_Val147insArgArg
ENST00000585806.5:n.431_436dup
ENST00000586669.5:n.440_445dup
ENST00000588882.1:c.357_362dup ENSP00000466729.1:p.Arg121_Val122insArgArg
ENST00000589864.1:n.260_265dup
NM_000363.4:c.432_437dup , LRG_432t1:c.432_437dup NP_000354.4:p.Arg146_Val147insArgArg
NM_000363.5:c.432_437dup MANE Select NP_000354.4:p.Arg146_Val147insArgArg