Canonical Allele Identifier: CA2172718477

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401451_42401474delinsGCTCCATCTGAATAAAGGTAGCGC , CM000677.2:g.42401451_42401474delinsGCTCCATCTGAATAAAGGTAGCGC	GRCh38
NC_000015.9:g.42693649_42693672delinsGCTCCATCTGAATAAAGGTAGCGC , CM000677.1:g.42693649_42693672delinsGCTCCATCTGAATAAAGGTAGCGC	GRCh37
NC_000015.8:g.40480941_40480964delinsGCTCCATCTGAATAAAGGTAGCGC	NCBI36
NG_008660.1:g.58349_58372delinsGCTCCATCTGAATAAAGGTAGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-190_1211-167delinsGCTCCATCTGAATAAAGGTAGCGC	ENSP00000183936.4:n.1211-190_1211-167delinsGCTCCATCTGAATAAAGG...
ENST00000357568.8:c.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC	ENSP00000350181.3:n.1355-190_1355-167delinsGCTCCATCTGAATAAAGG...
ENST00000397163.8:c.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC MANE Select	ENSP00000380349.3:n.1355-190_1355-167delinsGCTCCATCTGAATAAAGG...
ENST00000466369.5:n.1864-190_1864-167delinsGCTCCATCTGAATAAAGGTAGCGC
ENST00000483208.5:n.1586-190_1586-167delinsGCTCCATCTGAATAAAGGTAGCGC
ENST00000495723.1:n.1586-190_1586-167delinsGCTCCATCTGAATAAAGGTAGCGC
ENST00000549793.5:n.1586-190_1586-167delinsGCTCCATCTGAATAAAGGTAGCGC
ENST00000638141.2:n.1226-190_1226-167delinsGCTCCATCTGAATAAAGGTAGCGC
ENST00000673705.1:c.309+1799_309+1822delinsGCTCCATCTGAATAAAGGTAGCGC	ENSP00000501021.1:n.309+1799_309+1822delinsGCTCCATCTGAATAAAGG...
ENST00000318023.11:c.1211-190_1211-167delinsGCTCCATCTGAATAAAGGTAGCGC	ENSP00000326281.8:n.1211-190_1211-167delinsGCTCCATCTGAATAAAGG...
ENST00000349748.7:c.1211-190_1211-167delinsGCTCCATCTGAATAAAGGTAGCGC	ENSP00000183936.4:n.1211-190_1211-167delinsGCTCCATCTGAATAAAGG...
ENST00000357568.7:c.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC	ENSP00000350181.3:n.1355-190_1355-167delinsGCTCCATCTGAATAAAGG...
ENST00000397163.7:c.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC	ENSP00000380349.3:n.1355-190_1355-167delinsGCTCCATCTGAATAAAGG...
NM_000070.2:c.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC	NP_000061.1:n.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC...
NM_024344.1:c.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC	NP_077320.1:n.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC...
NM_173087.1:c.1211-190_1211-167delinsGCTCCATCTGAATAAAGGTAGCGC	NP_775110.1:n.1211-190_1211-167delinsGCTCCATCTGAATAAAGGTAGCGC...
NM_000070.3:c.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC MANE Select	NP_000061.1:n.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC...
NM_024344.2:c.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC	NP_077320.1:n.1355-190_1355-167delinsGCTCCATCTGAATAAAGGTAGCGC...
NM_173087.2:c.1211-190_1211-167delinsGCTCCATCTGAATAAAGGTAGCGC	NP_775110.1:n.1211-190_1211-167delinsGCTCCATCTGAATAAAGGTAGCGC...