Canonical Allele Identifier: CA969127268

Gene: CAPN3

Linked Data

• dbSNP Id: rs1364887586
• gnomAD v3: 15-42401480-C-CA
• gnomAD v4: 15-42401480-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401480_42401481insA , CM000677.2:g.42401480_42401481insA	GRCh38
NC_000015.9:g.42693678_42693679insA , CM000677.1:g.42693678_42693679insA	GRCh37
NC_000015.8:g.40480970_40480971insA	NCBI36
NG_008660.1:g.58378_58379insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-161_1211-160insA	ENSP00000183936.4:n.1211-161_1211-160insA
ENST00000357568.8:c.1355-161_1355-160insA	ENSP00000350181.3:n.1355-161_1355-160insA
ENST00000397163.8:c.1355-161_1355-160insA MANE Select	ENSP00000380349.3:n.1355-161_1355-160insA
ENST00000466369.5:n.1864-161_1864-160insA
ENST00000483208.5:n.1586-161_1586-160insA
ENST00000495723.1:n.1586-161_1586-160insA
ENST00000549793.5:n.1586-161_1586-160insA
ENST00000638141.2:n.1226-161_1226-160insA
ENST00000673705.1:c.309+1828_309+1829insA	ENSP00000501021.1:n.309+1828_309+1829insA
ENST00000318023.11:c.1211-161_1211-160insA	ENSP00000326281.8:n.1211-161_1211-160insA
ENST00000349748.7:c.1211-161_1211-160insA	ENSP00000183936.4:n.1211-161_1211-160insA
ENST00000357568.7:c.1355-161_1355-160insA	ENSP00000350181.3:n.1355-161_1355-160insA
ENST00000397163.7:c.1355-161_1355-160insA	ENSP00000380349.3:n.1355-161_1355-160insA
NM_000070.2:c.1355-161_1355-160insA	NP_000061.1:n.1355-161_1355-160insA
NM_024344.1:c.1355-161_1355-160insA	NP_077320.1:n.1355-161_1355-160insA
NM_173087.1:c.1211-161_1211-160insA	NP_775110.1:n.1211-161_1211-160insA
NM_000070.3:c.1355-161_1355-160insA MANE Select	NP_000061.1:n.1355-161_1355-160insA
NM_024344.2:c.1355-161_1355-160insA	NP_077320.1:n.1355-161_1355-160insA
NM_173087.2:c.1211-161_1211-160insA	NP_775110.1:n.1211-161_1211-160insA