Canonical Allele Identifier: CA997255988
Gene: TNNI3 HGNC NCBI

Linked Data

dbSNP Id: rs2085708651

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55153788_55153789insTGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACA , CM000681.2:g.55153788_55153789insTGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACA GRCh38
NC_000019.9:g.55665156_55665157insTGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACA , CM000681.1:g.55665156_55665157insTGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACA GRCh37
NC_000019.8:g.60356968_60356969insTGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACA NCBI36
NG_007866.2:g.8977_8978insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT , LRG_432:g.8977_8978insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT
NG_011829.2:g.483_484insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT MANE Select ENSP00000341838.5:n.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTG...
ENST00000665070.1:c.582+274_582+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT ENSP00000499482.1:n.582+274_582+275insAAATTTCCTTTTTTTTTTTTTTG...
ENST00000344887.9:c.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT ENSP00000341838.5:n.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTG...
ENST00000585806.5:n.548+274_548+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT
ENST00000588882.1:c.474+274_474+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT ENSP00000466729.1:n.474+274_474+275insAAATTTCCTTTTTTTTTTTTTTG...
ENST00000589864.1:n.377+274_377+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT
NM_000363.4:c.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT , LRG_432t1:c.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT NP_000354.4:n.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTGAGATGG...
NM_000363.5:c.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCATGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT MANE Select NP_000354.4:n.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTGAGATGG...