Canonical Allele Identifier: CA2573054831

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 1314770
• ClinVar RCV Id: RCV001765811
• dbSNP Id: rs2147283705

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154784_55154785delinsGT , CM000681.2:g.55154784_55154785delinsGT	GRCh38
NC_000019.9:g.55666152_55666153delinsGT , CM000681.1:g.55666152_55666153delinsGT	GRCh37
NC_000019.8:g.60357964_60357965delinsGT	NCBI36
NG_007866.2:g.7948_7949delinsAC , LRG_432:g.7948_7949delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.328_329delinsAC MANE Select	ENSP00000341838.5:p.Glu110Thr
ENST00000665070.1:c.328_329delinsAC	ENSP00000499482.1:p.Glu110Thr
ENST00000344887.9:c.328_329delinsAC	ENSP00000341838.5:p.Glu110Thr
ENST00000585806.5:n.327_328delinsAC
ENST00000586669.5:n.336_337delinsAC
ENST00000587176.5:n.512_513delinsAC
ENST00000587871.1:c.947_948delinsAC
ENST00000588882.1:c.253_254delinsAC	ENSP00000466729.1:p.Glu85Thr
ENST00000590463.1:n.500_501delinsAC
NM_000363.4:c.328_329delinsAC , LRG_432t1:c.328_329delinsAC	NP_000354.4:p.Glu110Thr
NM_000363.5:c.328_329delinsAC MANE Select	NP_000354.4:p.Glu110Thr