Canonical Allele Identifier: CA997247066

Gene: TNNI3

Linked Data

• gnomAD v3: 19-55153749-G-GAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAAGA
• gnomAD v4: 19-55153749-G-GAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55153797_55153798insAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGC , CM000681.2:g.55153797_55153798insAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGC	GRCh38
NC_000019.9:g.55665165_55665166insAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGC , CM000681.1:g.55665165_55665166insAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGC	GRCh37
NC_000019.8:g.60356977_60356978insAACTGCACCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGC	NCBI36
NG_007866.2:g.8983_8984insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT , LRG_432:g.8983_8984insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT
NG_011829.2:g.489_490insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.549+280_549+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT MANE Select	ENSP00000341838.5:n.549+280_549+281insTCTTTTTTTTTTTTTTTGAGATG...
ENST00000665070.1:c.582+280_582+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT	ENSP00000499482.1:n.582+280_582+281insTCTTTTTTTTTTTTTTTGAGATG...
ENST00000344887.9:c.549+280_549+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT	ENSP00000341838.5:n.549+280_549+281insTCTTTTTTTTTTTTTTTGAGATG...
ENST00000585806.5:n.548+280_548+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT
ENST00000588882.1:c.474+280_474+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT	ENSP00000466729.1:n.474+280_474+281insTCTTTTTTTTTTTTTTTGAGATG...
ENST00000589864.1:n.377+280_377+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT
NM_000363.4:c.549+280_549+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT , LRG_432t1:c.549+280_549+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT	NP_000354.4:n.549+280_549+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCT...
NM_000363.5:c.549+280_549+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTT MANE Select	NP_000354.4:n.549+280_549+281insTCTTTTTTTTTTTTTTTGAGATGGAGTCT...