Canonical Allele Identifier: CA2172697481

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360152_42360153delinsCA , CM000677.2:g.42360152_42360153delinsCA	GRCh38
NC_000015.9:g.42652350_42652351delinsCA , CM000677.1:g.42652350_42652351delinsCA	GRCh37
NC_000015.8:g.40439642_40439643delinsCA	NCBI36
NG_008660.1:g.17050_17051delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.309+38_309+39delinsCA	ENSP00000183936.4:n.309+38_309+39delinsCA
ENST00000357568.8:c.309+38_309+39delinsCA	ENSP00000350181.3:n.309+38_309+39delinsCA
ENST00000397163.8:c.309+38_309+39delinsCA MANE Select	ENSP00000380349.3:n.309+38_309+39delinsCA
ENST00000466369.5:n.540+5699_540+5700delinsCA
ENST00000483208.5:n.540+5699_540+5700delinsCA
ENST00000495723.1:n.540+5699_540+5700delinsCA
ENST00000549793.5:n.540+5699_540+5700delinsCA
ENST00000318023.11:c.309+38_309+39delinsCA	ENSP00000326281.8:n.309+38_309+39delinsCA
ENST00000349748.7:c.309+38_309+39delinsCA	ENSP00000183936.4:n.309+38_309+39delinsCA
ENST00000357568.7:c.309+38_309+39delinsCA	ENSP00000350181.3:n.309+38_309+39delinsCA
ENST00000397163.7:c.309+38_309+39delinsCA	ENSP00000380349.3:n.309+38_309+39delinsCA
NM_000070.2:c.309+38_309+39delinsCA	NP_000061.1:n.309+38_309+39delinsCA
NM_024344.1:c.309+38_309+39delinsCA	NP_077320.1:n.309+38_309+39delinsCA
NM_173087.1:c.309+38_309+39delinsCA	NP_775110.1:n.309+38_309+39delinsCA
NM_000070.3:c.309+38_309+39delinsCA MANE Select	NP_000061.1:n.309+38_309+39delinsCA
NM_024344.2:c.309+38_309+39delinsCA	NP_077320.1:n.309+38_309+39delinsCA
NM_173087.2:c.309+38_309+39delinsCA	NP_775110.1:n.309+38_309+39delinsCA