Canonical Allele Identifier: CA2803911489
Gene: CAPN3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42401473_42401474insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000677.2:g.42401473_42401474insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GRCh38
NC_000015.9:g.42693671_42693672insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000677.1:g.42693671_42693672insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GRCh37
NC_000015.8:g.40480963_40480964insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG NCBI36
NG_008660.1:g.58371_58372insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1211-168_1211-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG ENSP00000183936.4:n.1211-168_1211-167insGGGGGGGGGGGGGGGGGGGGG...
ENST00000357568.8:c.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG ENSP00000350181.3:n.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGG...
ENST00000397163.8:c.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select ENSP00000380349.3:n.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGG...
ENST00000466369.5:n.1864-168_1864-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
ENST00000483208.5:n.1586-168_1586-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
ENST00000495723.1:n.1586-168_1586-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
ENST00000549793.5:n.1586-168_1586-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
ENST00000638141.2:n.1226-168_1226-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
ENST00000673705.1:c.309+1821_309+1822insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG ENSP00000501021.1:n.309+1821_309+1822insGGGGGGGGGGGGGGGGGGGGG...
ENST00000318023.11:c.1211-168_1211-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG ENSP00000326281.8:n.1211-168_1211-167insGGGGGGGGGGGGGGGGGGGGG...
ENST00000349748.7:c.1211-168_1211-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG ENSP00000183936.4:n.1211-168_1211-167insGGGGGGGGGGGGGGGGGGGGG...
ENST00000357568.7:c.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG ENSP00000350181.3:n.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGG...
ENST00000397163.7:c.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG ENSP00000380349.3:n.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGG...
NM_000070.2:c.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG NP_000061.1:n.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_024344.1:c.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG NP_077320.1:n.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_173087.1:c.1211-168_1211-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG NP_775110.1:n.1211-168_1211-167insGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000070.3:c.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select NP_000061.1:n.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_024344.2:c.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG NP_077320.1:n.1355-168_1355-167insGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_173087.2:c.1211-168_1211-167insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG NP_775110.1:n.1211-168_1211-167insGGGGGGGGGGGGGGGGGGGGGGGGGGG...
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