Canonical Allele Identifier: CA2573053998

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1325401
• ClinVar RCV Id: RCV001784076
• dbSNP Id: rs2141167851

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388998_42388999insA , CM000677.2:g.42388998_42388999insA	GRCh38
NC_000015.9:g.42681196_42681197insA , CM000677.1:g.42681196_42681197insA	GRCh37
NC_000015.8:g.40468488_40468489insA	NCBI36
NG_008660.1:g.45896_45897insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.703_704insA	ENSP00000183936.4:p.Val235AspfsTer6
ENST00000357568.8:c.703_704insA	ENSP00000350181.3:p.Val235AspfsTer6
ENST00000397163.8:c.703_704insA MANE Select	ENSP00000380349.3:p.Val235AspfsTer6
ENST00000466369.5:n.1212_1213insA
ENST00000483208.5:n.934_935insA
ENST00000495723.1:n.934_935insA
ENST00000549793.5:n.934_935insA
ENST00000638141.2:n.718_719insA
ENST00000673705.1:c.70+4446_70+4447insA	ENSP00000501021.1:n.70+4446_70+4447insA
ENST00000318023.11:c.703_704insA	ENSP00000326281.8:p.Val235AspfsTer6
ENST00000349748.7:c.703_704insA	ENSP00000183936.4:p.Val235AspfsTer6
ENST00000357568.7:c.703_704insA	ENSP00000350181.3:p.Val235AspfsTer6
ENST00000397163.7:c.703_704insA	ENSP00000380349.3:p.Val235AspfsTer6
NM_000070.2:c.703_704insA	NP_000061.1:p.Val235AspfsTer6
NM_024344.1:c.703_704insA	NP_077320.1:p.Val235AspfsTer6
NM_173087.1:c.703_704insA	NP_775110.1:p.Val235AspfsTer6
NM_000070.3:c.703_704insA MANE Select	NP_000061.1:p.Val235AspfsTer6
NM_024344.2:c.703_704insA	NP_077320.1:p.Val235AspfsTer6
NM_173087.2:c.703_704insA	NP_775110.1:p.Val235AspfsTer6