Canonical Allele Identifier: CA2499225605
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 12433
ClinVar RCV Id: RCV000013246
dbSNP Id: rs2147283135
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154032_55154034del , CM000681.2:g.55154032_55154034del GRCh38
NC_000019.9:g.55665400_55665402del , CM000681.1:g.55665400_55665402del GRCh37
NC_000019.8:g.60357212_60357214del NCBI36
NG_007866.2:g.8701_8703del , LRG_432:g.8701_8703del
NG_011829.2:g.207_209del

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.547_549del MANE Select ENSP00000341838.5:p.Lys183del
ENST00000665070.1:c.580_582del ENSP00000499482.1:p.Lys194del
ENST00000344887.9:c.547_549del ENSP00000341838.5:p.Lys183del
ENST00000585806.5:n.546_548del
ENST00000588882.1:c.472_474del ENSP00000466729.1:p.Lys158del
ENST00000589864.1:n.375_377del
NM_000363.4:c.547_549del , LRG_432t1:c.547_549del NP_000354.4:p.Lys183del
NM_000363.5:c.547_549del MANE Select NP_000354.4:p.Lys183del
Search 100 bp 5'
Search 100 bp 3'