Canonical Allele Identifier: CA2628027864
Gene: CAPN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42360151_42360152insG , CM000677.2:g.42360151_42360152insG GRCh38
NC_000015.9:g.42652349_42652350insG , CM000677.1:g.42652349_42652350insG GRCh37
NC_000015.8:g.40439641_40439642insG NCBI36
NG_008660.1:g.17049_17050insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.309+37_309+38insG ENSP00000183936.4:n.309+37_309+38insG
ENST00000357568.8:c.309+37_309+38insG ENSP00000350181.3:n.309+37_309+38insG
ENST00000397163.8:c.309+37_309+38insG MANE Select ENSP00000380349.3:n.309+37_309+38insG
ENST00000466369.5:n.540+5698_540+5699insG
ENST00000483208.5:n.540+5698_540+5699insG
ENST00000495723.1:n.540+5698_540+5699insG
ENST00000549793.5:n.540+5698_540+5699insG
ENST00000318023.11:c.309+37_309+38insG ENSP00000326281.8:n.309+37_309+38insG
ENST00000349748.7:c.309+37_309+38insG ENSP00000183936.4:n.309+37_309+38insG
ENST00000357568.7:c.309+37_309+38insG ENSP00000350181.3:n.309+37_309+38insG
ENST00000397163.7:c.309+37_309+38insG ENSP00000380349.3:n.309+37_309+38insG
NM_000070.2:c.309+37_309+38insG NP_000061.1:n.309+37_309+38insG
NM_024344.1:c.309+37_309+38insG NP_077320.1:n.309+37_309+38insG
NM_173087.1:c.309+37_309+38insG NP_775110.1:n.309+37_309+38insG
NM_000070.3:c.309+37_309+38insG MANE Select NP_000061.1:n.309+37_309+38insG
NM_024344.2:c.309+37_309+38insG NP_077320.1:n.309+37_309+38insG
NM_173087.2:c.309+37_309+38insG NP_775110.1:n.309+37_309+38insG