Canonical Allele Identifier: CA2803911554

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402942_42402943insAACAC , CM000677.2:g.42402942_42402943insAACAC	GRCh38
NC_000015.9:g.42695140_42695141insAACAC , CM000677.1:g.42695140_42695141insAACAC	GRCh37
NC_000015.8:g.40482432_40482433insAACAC	NCBI36
NG_008660.1:g.59840_59841insAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1541_1542insAACAC	ENSP00000183936.4:p.Pro515ThrfsTer?
ENST00000357568.8:c.1685_1686insAACAC	ENSP00000350181.3:p.Pro563ThrfsTer?
ENST00000397163.8:c.1685_1686insAACAC MANE Select	ENSP00000380349.3:p.Pro563ThrfsTer?
ENST00000466369.5:n.2194_2195insAACAC
ENST00000483208.5:n.2574_2575insAACAC
ENST00000495723.1:n.2574_2575insAACAC
ENST00000549793.5:n.1916_1917insAACAC
ENST00000638141.2:n.1556_1557insAACAC
ENST00000673646.1:c.149_150insAACAC	ENSP00000501007.1:p.Pro51ThrfsTer?
ENST00000673705.1:c.309+3290_309+3291insAACAC	ENSP00000501021.1:n.309+3290_309+3291insAACAC
ENST00000673813.1:n.580+27_580+28insAACAC
ENST00000318023.11:c.1541_1542insAACAC	ENSP00000326281.8:p.Pro515ThrfsTer?
ENST00000349748.7:c.1541_1542insAACAC	ENSP00000183936.4:p.Pro515ThrfsTer?
ENST00000357568.7:c.1685_1686insAACAC	ENSP00000350181.3:p.Pro563ThrfsTer?
ENST00000397163.7:c.1685_1686insAACAC	ENSP00000380349.3:p.Pro563ThrfsTer?
ENST00000397200.8:c.149_150insAACAC	ENSP00000380384.4:p.Pro51ThrfsTer?
ENST00000567071.5:c.144_145insAACAC
ENST00000569827.5:c.149_150insAACAC	ENSP00000454379.1:p.Pro51ThrfsTer?
NM_000070.2:c.1685_1686insAACAC	NP_000061.1:p.Pro563ThrfsTer?
NM_024344.1:c.1685_1686insAACAC	NP_077320.1:p.Pro563ThrfsTer?
NM_173087.1:c.1541_1542insAACAC	NP_775110.1:p.Pro515ThrfsTer?
NM_173088.1:c.149_150insAACAC	NP_775111.1:p.Pro51ThrfsTer?
NM_000070.3:c.1685_1686insAACAC MANE Select	NP_000061.1:p.Pro563ThrfsTer?
NM_024344.2:c.1685_1686insAACAC	NP_077320.1:p.Pro563ThrfsTer?
NM_173087.2:c.1541_1542insAACAC	NP_775110.1:p.Pro515ThrfsTer?
NM_173088.2:c.149_150insAACAC	NP_775111.1:p.Pro51ThrfsTer?