Canonical Allele Identifier: CA2843378967

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402828dup , CM000677.2:g.42402828dup	GRCh38
NC_000015.9:g.42695026dup , CM000677.1:g.42695026dup	GRCh37
NC_000015.8:g.40482318dup	NCBI36
NG_008660.1:g.59726dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1427dup	ENSP00000183936.4:p.Phe477LeufsTer?
ENST00000357568.8:c.1571dup	ENSP00000350181.3:p.Phe525LeufsTer?
ENST00000397163.8:c.1571dup MANE Select	ENSP00000380349.3:p.Phe525LeufsTer?
ENST00000466369.5:n.2080dup
ENST00000483208.5:n.2460dup
ENST00000495723.1:n.2460dup
ENST00000549793.5:n.1802dup
ENST00000638141.2:n.1442dup
ENST00000673646.1:c.35dup	ENSP00000501007.1:p.Phe13LeufsTer?
ENST00000673705.1:c.309+3176dup	ENSP00000501021.1:n.309+3176dup
ENST00000673813.1:n.493dup
ENST00000318023.11:c.1427dup	ENSP00000326281.8:p.Phe477LeufsTer?
ENST00000349748.7:c.1427dup	ENSP00000183936.4:p.Phe477LeufsTer?
ENST00000357568.7:c.1571dup	ENSP00000350181.3:p.Phe525LeufsTer?
ENST00000397163.7:c.1571dup	ENSP00000380349.3:p.Phe525LeufsTer?
ENST00000397200.8:c.35dup	ENSP00000380384.4:p.Phe13LeufsTer?
ENST00000567071.5:c.30dup
ENST00000569827.5:c.35dup	ENSP00000454379.1:p.Phe13LeufsTer?
NM_000070.2:c.1571dup	NP_000061.1:p.Phe525LeufsTer?
NM_024344.1:c.1571dup	NP_077320.1:p.Phe525LeufsTer?
NM_173087.1:c.1427dup	NP_775110.1:p.Phe477LeufsTer?
NM_173088.1:c.35dup	NP_775111.1:p.Phe13LeufsTer?
NM_000070.3:c.1571dup MANE Select	NP_000061.1:p.Phe525LeufsTer?
NM_024344.2:c.1571dup	NP_077320.1:p.Phe525LeufsTer?
NM_173087.2:c.1427dup	NP_775110.1:p.Phe477LeufsTer?
NM_173088.2:c.35dup	NP_775111.1:p.Phe13LeufsTer?