Canonical Allele Identifier: CA2580097811
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2016713
ClinVar RCV Id: RCV002844036
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55151870del , CM000681.2:g.55151870del GRCh38
NC_000019.9:g.55663238del , CM000681.1:g.55663238del GRCh37
NC_000019.8:g.60355050del NCBI36
NG_007866.2:g.10863del , LRG_432:g.10863del
NG_011829.2:g.2369del

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.597del MANE Select ENSP00000341838.5:p.Ser199ArgfsTer22
ENST00000665070.1:c.630del ENSP00000499482.1:p.Ser210ArgfsTer22
ENST00000344887.9:c.597del ENSP00000341838.5:p.Ser199ArgfsTer22
ENST00000585806.5:n.596del
ENST00000588882.1:c.522del ENSP00000466729.1:p.Ser174ArgfsTer22
ENST00000589864.1:n.425del
NM_000363.4:c.597del , LRG_432t1:c.597del NP_000354.4:p.Ser199ArgfsTer22
NM_000363.5:c.597del MANE Select NP_000354.4:p.Ser199ArgfsTer22
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Search 100 bp 3'