Canonical Allele Identifier: CA021828
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 43386
ClinVar RCV Id: RCV000700121 RCV001781349 RCV003114214
dbSNP Id: rs397516351
MyVariant Identifiers: chr19:g.55665413_55665415del (hg19) chr19:g.55154045_55154047del (hg38)
PubMed: PMID:12707239 PMID:18403758
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154049_55154051del , CM000681.2:g.55154049_55154051del GRCh38
NC_000019.9:g.55665417_55665419del , CM000681.1:g.55665417_55665419del GRCh37
NC_000019.8:g.60357229_60357231del NCBI36
NG_007866.2:g.8686_8688del , LRG_432:g.8686_8688del
NG_011829.2:g.192_194del

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.532_534del MANE Select ENSP00000341838.5:p.Lys178del
ENST00000665070.1:c.565_567del ENSP00000499482.1:p.Lys189del
ENST00000344887.9:c.532_534del ENSP00000341838.5:p.Lys178del
ENST00000585806.5:n.531_533del
ENST00000588882.1:c.457_459del ENSP00000466729.1:p.Lys153del
ENST00000589864.1:n.360_362del
NM_000363.4:c.532_534del , LRG_432t1:c.532_534del NP_000354.4:p.Lys178del
NM_000363.5:c.532_534del MANE Select NP_000354.4:p.Lys178del
Search 100 bp 5'
Search 100 bp 3'