Canonical Allele Identifier: CA913187836
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 926105
ClinVar RCV Id: RCV001188494
dbSNP Id: rs2085738631
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55157096_55157112del , CM000681.2:g.55157096_55157112del GRCh38
NC_000019.9:g.55668464_55668480del , CM000681.1:g.55668464_55668480del GRCh37
NC_000019.8:g.60360276_60360292del NCBI36
NG_007866.2:g.5623_5639del , LRG_432:g.5623_5639del
NG_032759.1:g.14613_14629del

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.48_64del MANE Select ENSP00000341838.5:p.Ala17LeufsTer18
ENST00000665070.1:c.48_64del ENSP00000499482.1:p.Ala17LeufsTer18
ENST00000344887.9:c.48_64del ENSP00000341838.5:p.Ala17LeufsTer18
ENST00000586446.1:n.190_206del
ENST00000586669.5:n.56_72del
ENST00000587176.5:n.232_248del
ENST00000587871.1:c.667_683del
ENST00000590463.1:n.220_236del
NM_000363.4:c.48_64del , LRG_432t1:c.48_64del NP_000354.4:p.Ala17LeufsTer18
NM_000363.5:c.48_64del MANE Select NP_000354.4:p.Ala17LeufsTer18
Search 100 bp 5'
Search 100 bp 3'