Canonical Allele Identifier: CA2580614977
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2098796
ClinVar RCV Id: RCV003031122 RCV003336791
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154044_55154046del , CM000681.2:g.55154044_55154046del GRCh38
NC_000019.9:g.55665412_55665414del , CM000681.1:g.55665412_55665414del GRCh37
NC_000019.8:g.60357224_60357226del NCBI36
NG_007866.2:g.8691_8693del , LRG_432:g.8691_8693del
NG_011829.2:g.197_199del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.537_539del MANE Select ENSP00000341838.5:p.Glu179del
ENST00000665070.1:c.570_572del ENSP00000499482.1:p.Glu190del
ENST00000344887.9:c.537_539del ENSP00000341838.5:p.Glu179del
ENST00000585806.5:n.536_538del
ENST00000588882.1:c.462_464del ENSP00000466729.1:p.Glu154del
ENST00000589864.1:n.365_367del
NM_000363.4:c.537_539del , LRG_432t1:c.537_539del NP_000354.4:p.Glu179del
NM_000363.5:c.537_539del MANE Select NP_000354.4:p.Glu179del
Search 100 bp 5'
Search 100 bp 3'