Canonical Allele Identifier: CA2343272643
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004884
ClinVar RCV Id: RCV001301660
dbSNP Id: rs2085697125
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55151898_55151904del , CM000681.2:g.55151898_55151904del GRCh38
NC_000019.9:g.55663266_55663272del , CM000681.1:g.55663266_55663272del GRCh37
NC_000019.8:g.60355078_60355084del NCBI36
NG_007866.2:g.10829_10835del , LRG_432:g.10829_10835del
NG_011829.2:g.2335_2341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.563_569del MANE Select ENSP00000341838.5:p.Val188AlafsTer9
ENST00000665070.1:c.596_602del ENSP00000499482.1:p.Val199AlafsTer9
ENST00000344887.9:c.563_569del ENSP00000341838.5:p.Val188AlafsTer9
ENST00000585806.5:n.562_568del
ENST00000588882.1:c.488_494del ENSP00000466729.1:p.Val163AlafsTer9
ENST00000589864.1:n.391_397del
NM_000363.4:c.563_569del , LRG_432t1:c.563_569del NP_000354.4:p.Val188AlafsTer9
NM_000363.5:c.563_569del MANE Select NP_000354.4:p.Val188AlafsTer9
Search 100 bp 5'
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