Canonical Allele Identifier: CA24568905
Gene: TNNI3K HGNC NCBI
FPGT-TNNI3K HGNC NCBI
LRRC53 HGNC NCBI

Linked Data

dbSNP Id: rs970361477
MyVariant Identifiers: chr1:g.74993024_74993025insTCAT (hg19) chr1:g.74527340_74527341insTCAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.74527352_74527355dup , CM000663.2:g.74527352_74527355dup GRCh38
NC_000001.10:g.74993036_74993039dup , CM000663.1:g.74993036_74993039dup GRCh37
NC_000001.9:g.74765624_74765627dup NCBI36
NG_032939.2:g.334100_334103dup

Transcript Alleles

HGVS Amino-acid change
ENST00000326637.8:c.2352-12882_2352-12879dup (TNNI3K) MANE Select ENSP00000322251.3:n.2352-12882_2352-12879...
ENST00000557284.7:c.2655-12882_2655-12879dup (FPGT-TNNI3K) ENSP00000450895.3:n.2655-12882_2655-12879...
ENST00000648585.1:c.*2258-12882_*2258-12879dup (FPGT-TNNI3K) ENSP00000497631.1:n.*2258-12882_*2258-128...
ENST00000326637.7:c.2352-12882_2352-12879dup (TNNI3K) ENSP00000322251.3:n.2352-12882_2352-12879...
ENST00000557284.6:c.2694-12882_2694-12879dup (FPGT-TNNI3K) ENSP00000450895.2:n.2694-12882_2694-12879...
NM_001112808.2:c.2694-12882_2694-12879dup (FPGT-TNNI3K) NP_001106279.2:n.2694-12882_2694-12879dup...
NM_015978.2:c.2352-12882_2352-12879dup (TNNI3K) NP_057062.1:n.2352-12882_2352-12879dup
XM_011542511.1:c.49+9460_49+9463dup (LRRC53) XP_011540813.1:n.49+9460_49+9463dup
XM_011542512.3:c.49+9460_49+9463dup (LRRC53) XP_011540814.2:n.49+9460_49+9463dup
XM_017003081.1:c.49+9460_49+9463dup (LRRC53) XP_016858570.1:n.49+9460_49+9463dup
NM_015978.3:c.2352-12882_2352-12879dup (TNNI3K) MANE Select NP_057062.1:n.2352-12882_2352-12879dup
NM_001112808.3:c.2655-12882_2655-12879dup (FPGT-TNNI3K) NP_001106279.3:n.2655-12882_2655-12879dup...
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