Canonical Allele Identifier: CA2172697469

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360142_42360143delinsGT , CM000677.2:g.42360142_42360143delinsGT	GRCh38
NC_000015.9:g.42652340_42652341delinsGT , CM000677.1:g.42652340_42652341delinsGT	GRCh37
NC_000015.8:g.40439632_40439633delinsGT	NCBI36
NG_008660.1:g.17040_17041delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.309+28_309+29delinsGT	ENSP00000183936.4:n.309+28_309+29delinsGT
ENST00000357568.8:c.309+28_309+29delinsGT	ENSP00000350181.3:n.309+28_309+29delinsGT
ENST00000397163.8:c.309+28_309+29delinsGT MANE Select	ENSP00000380349.3:n.309+28_309+29delinsGT
ENST00000466369.5:n.540+5689_540+5690delinsGT
ENST00000483208.5:n.540+5689_540+5690delinsGT
ENST00000495723.1:n.540+5689_540+5690delinsGT
ENST00000549793.5:n.540+5689_540+5690delinsGT
ENST00000318023.11:c.309+28_309+29delinsGT	ENSP00000326281.8:n.309+28_309+29delinsGT
ENST00000349748.7:c.309+28_309+29delinsGT	ENSP00000183936.4:n.309+28_309+29delinsGT
ENST00000357568.7:c.309+28_309+29delinsGT	ENSP00000350181.3:n.309+28_309+29delinsGT
ENST00000397163.7:c.309+28_309+29delinsGT	ENSP00000380349.3:n.309+28_309+29delinsGT
NM_000070.2:c.309+28_309+29delinsGT	NP_000061.1:n.309+28_309+29delinsGT
NM_024344.1:c.309+28_309+29delinsGT	NP_077320.1:n.309+28_309+29delinsGT
NM_173087.1:c.309+28_309+29delinsGT	NP_775110.1:n.309+28_309+29delinsGT
NM_000070.3:c.309+28_309+29delinsGT MANE Select	NP_000061.1:n.309+28_309+29delinsGT
NM_024344.2:c.309+28_309+29delinsGT	NP_077320.1:n.309+28_309+29delinsGT
NM_173087.2:c.309+28_309+29delinsGT	NP_775110.1:n.309+28_309+29delinsGT