Canonical Allele Identifier: CA2695197264

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2680372
• ClinVar RCV Id: RCV003460309

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401706_42401719delinsC , CM000677.2:g.42401706_42401719delinsC	GRCh38
NC_000015.9:g.42693904_42693917delinsC , CM000677.1:g.42693904_42693917delinsC	GRCh37
NC_000015.8:g.40481196_40481209delinsC	NCBI36
NG_008660.1:g.58604_58617delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1276_1289delinsC	ENSP00000183936.4:p.Ser426ProfsTer7
ENST00000357568.8:c.1420_1433delinsC	ENSP00000350181.3:p.Ser474ProfsTer7
ENST00000397163.8:c.1420_1433delinsC MANE Select	ENSP00000380349.3:p.Ser474ProfsTer7
ENST00000466369.5:n.1929_1942delinsC
ENST00000483208.5:n.1651_1664delinsC
ENST00000495723.1:n.1651_1664delinsC
ENST00000549793.5:n.1651_1664delinsC
ENST00000638141.2:n.1291_1304delinsC
ENST00000673705.1:c.309+2054_309+2067delinsC	ENSP00000501021.1:n.309+2054_309+2067delinsC
ENST00000318023.11:c.1276_1289delinsC	ENSP00000326281.8:p.Ser426ProfsTer7
ENST00000349748.7:c.1276_1289delinsC	ENSP00000183936.4:p.Ser426ProfsTer7
ENST00000357568.7:c.1420_1433delinsC	ENSP00000350181.3:p.Ser474ProfsTer7
ENST00000397163.7:c.1420_1433delinsC	ENSP00000380349.3:p.Ser474ProfsTer7
NM_000070.2:c.1420_1433delinsC	NP_000061.1:p.Ser474ProfsTer7
NM_024344.1:c.1420_1433delinsC	NP_077320.1:p.Ser474ProfsTer7
NM_173087.1:c.1276_1289delinsC	NP_775110.1:p.Ser426ProfsTer7
NM_000070.3:c.1420_1433delinsC MANE Select	NP_000061.1:p.Ser474ProfsTer7
NM_024344.2:c.1420_1433delinsC	NP_077320.1:p.Ser474ProfsTer7
NM_173087.2:c.1276_1289delinsC	NP_775110.1:p.Ser426ProfsTer7