Canonical Allele Identifier: CA997260304

Gene: TNNI3

Linked Data

• gnomAD v3: 19-55153755-A-AAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGAAATTT
• gnomAD v4: 19-55153755-A-AAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGAAATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55153797_55153798insAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGC , CM000681.2:g.55153797_55153798insAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGC	GRCh38
NC_000019.9:g.55665165_55665166insAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGC , CM000681.1:g.55665165_55665166insAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGC	GRCh37
NC_000019.8:g.60356977_60356978insAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGC	NCBI36
NG_007866.2:g.8977_8978insAAATTTCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT , LRG_432:g.8977_8978insAAATTTCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT
NG_011829.2:g.483_484insAAATTTCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT

Transcript Alleles

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