Canonical Allele Identifier: CA2499222911

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1071335
• ClinVar RCV Id: RCV001383787
• dbSNP Id: rs2141202919

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402847dup , CM000677.2:g.42402847dup	GRCh38
NC_000015.9:g.42695045dup , CM000677.1:g.42695045dup	GRCh37
NC_000015.8:g.40482337dup	NCBI36
NG_008660.1:g.59745dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1446dup	ENSP00000183936.4:p.Lys483GlnfsTer?
ENST00000357568.8:c.1590dup	ENSP00000350181.3:p.Lys531GlnfsTer?
ENST00000397163.8:c.1590dup MANE Select	ENSP00000380349.3:p.Lys531GlnfsTer?
ENST00000466369.5:n.2099dup
ENST00000483208.5:n.2479dup
ENST00000495723.1:n.2479dup
ENST00000549793.5:n.1821dup
ENST00000638141.2:n.1461dup
ENST00000673646.1:c.54dup	ENSP00000501007.1:p.Lys19GlnfsTer?
ENST00000673705.1:c.309+3195dup	ENSP00000501021.1:n.309+3195dup
ENST00000673813.1:n.512dup
ENST00000318023.11:c.1446dup	ENSP00000326281.8:p.Lys483GlnfsTer?
ENST00000349748.7:c.1446dup	ENSP00000183936.4:p.Lys483GlnfsTer?
ENST00000357568.7:c.1590dup	ENSP00000350181.3:p.Lys531GlnfsTer?
ENST00000397163.7:c.1590dup	ENSP00000380349.3:p.Lys531GlnfsTer?
ENST00000397200.8:c.54dup	ENSP00000380384.4:p.Lys19GlnfsTer?
ENST00000567071.5:c.49dup
ENST00000569827.5:c.54dup	ENSP00000454379.1:p.Lys19GlnfsTer?
NM_000070.2:c.1590dup	NP_000061.1:p.Lys531GlnfsTer?
NM_024344.1:c.1590dup	NP_077320.1:p.Lys531GlnfsTer?
NM_173087.1:c.1446dup	NP_775110.1:p.Lys483GlnfsTer?
NM_173088.1:c.54dup	NP_775111.1:p.Lys19GlnfsTer?
NM_000070.3:c.1590dup MANE Select	NP_000061.1:p.Lys531GlnfsTer?
NM_024344.2:c.1590dup	NP_077320.1:p.Lys531GlnfsTer?
NM_173087.2:c.1446dup	NP_775110.1:p.Lys483GlnfsTer?
NM_173088.2:c.54dup	NP_775111.1:p.Lys19GlnfsTer?