Canonical Allele Identifier: CA997258177

Gene: TNNI3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55153762_55153763insTTTTTTTTTAAACCTCAAAGATTAAAGGCATAAGCAAATGCACCTGGAAAGCAGAGACCCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAA , CM000681.2:g.55153762_55153763insTTTTTTTTTAAACCTCAAAGATTAAAGGCATAAGCAAATGCACCTGGAAAGCAGAGACCCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAA	GRCh38
NC_000019.9:g.55665130_55665131insTTTTTTTTTAAACCTCAAAGATTAAAGGCATAAGCAAATGCACCTGGAAAGCAGAGACCCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAA , CM000681.1:g.55665130_55665131insTTTTTTTTTAAACCTCAAAGATTAAAGGCATAAGCAAATGCACCTGGAAAGCAGAGACCCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAA	GRCh37
NC_000019.8:g.60356942_60356943insTTTTTTTTTAAACCTCAAAGATTAAAGGCATAAGCAAATGCACCTGGAAAGCAGAGACCCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAA	NCBI36
NG_007866.2:g.8977_8978insAAATTTCCTTTTTTTTTTTTTTGAGATGGGGTCTCTGCTTTCCAGGTGCATTTGCTTATGCCTTTAATCTTTGAGGTTTAAAAAAAAATTTTTTT , LRG_432:g.8977_8978insAAATTTCCTTTTTTTTTTTTTTGAGATGGGGTCTCTGCTTTCCAGGTGCATTTGCTTATGCCTTTAATCTTTGAGGTTTAAAAAAAAATTTTTTT
NG_011829.2:g.483_484insAAATTTCCTTTTTTTTTTTTTTGAGATGGGGTCTCTGCTTTCCAGGTGCATTTGCTTATGCCTTTAATCTTTGAGGTTTAAAAAAAAATTTTTTT

Transcript Alleles

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