Canonical Allele Identifier: CA2580097804
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1747743
ClinVar RCV Id: RCV002349795
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154031_55154032delinsAC , CM000681.2:g.55154031_55154032delinsAC GRCh38
NC_000019.9:g.55665399_55665400delinsAC , CM000681.1:g.55665399_55665400delinsAC GRCh37
NC_000019.8:g.60357211_60357212delinsAC NCBI36
NG_007866.2:g.8701_8702delinsGT , LRG_432:g.8701_8702delinsGT
NG_011829.2:g.207_208delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.547_548delinsGT MANE Select ENSP00000341838.5:p.Lys183Val
ENST00000665070.1:c.580_581delinsGT ENSP00000499482.1:p.Lys194Val
ENST00000344887.9:c.547_548delinsGT ENSP00000341838.5:p.Lys183Val
ENST00000585806.5:n.546_547delinsGT
ENST00000588882.1:c.472_473delinsGT ENSP00000466729.1:p.Lys158Val
ENST00000589864.1:n.375_376delinsGT
NM_000363.4:c.547_548delinsGT , LRG_432t1:c.547_548delinsGT NP_000354.4:p.Lys183Val
NM_000363.5:c.547_548delinsGT MANE Select NP_000354.4:p.Lys183Val
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