Canonical Allele Identifier: CA969127903

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053914245
• gnomAD v3: 15-42402918-A-ACGTCAT
• gnomAD v4: 15-42402918-A-ACGTCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402922_42402927dup , CM000677.2:g.42402922_42402927dup	GRCh38
NC_000015.9:g.42695120_42695125dup , CM000677.1:g.42695120_42695125dup	GRCh37
NC_000015.8:g.40482412_40482417dup	NCBI36
NG_008660.1:g.59820_59825dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1521_1526dup	ENSP00000183936.4:p.Val509_Pro510insIleVal
ENST00000357568.8:c.1665_1670dup	ENSP00000350181.3:p.Val557_Pro558insIleVal
ENST00000397163.8:c.1665_1670dup MANE Select	ENSP00000380349.3:p.Val557_Pro558insIleVal
ENST00000466369.5:n.2174_2179dup
ENST00000483208.5:n.2554_2559dup
ENST00000495723.1:n.2554_2559dup
ENST00000549793.5:n.1896_1901dup
ENST00000638141.2:n.1536_1541dup
ENST00000673646.1:c.129_134dup	ENSP00000501007.1:p.Val45_Pro46insIleVal
ENST00000673705.1:c.309+3270_309+3275dup	ENSP00000501021.1:n.309+3270_309+3275dup
ENST00000673813.1:n.580+7_580+12dup
ENST00000318023.11:c.1521_1526dup	ENSP00000326281.8:p.Val509_Pro510insIleVal
ENST00000349748.7:c.1521_1526dup	ENSP00000183936.4:p.Val509_Pro510insIleVal
ENST00000357568.7:c.1665_1670dup	ENSP00000350181.3:p.Val557_Pro558insIleVal
ENST00000397163.7:c.1665_1670dup	ENSP00000380349.3:p.Val557_Pro558insIleVal
ENST00000397200.8:c.129_134dup	ENSP00000380384.4:p.Val45_Pro46insIleVal
ENST00000567071.5:c.124_129dup
ENST00000569827.5:c.129_134dup	ENSP00000454379.1:p.Val45_Pro46insIleVal
NM_000070.2:c.1665_1670dup	NP_000061.1:p.Val557_Pro558insIleVal
NM_024344.1:c.1665_1670dup	NP_077320.1:p.Val557_Pro558insIleVal
NM_173087.1:c.1521_1526dup	NP_775110.1:p.Val509_Pro510insIleVal
NM_173088.1:c.129_134dup	NP_775111.1:p.Val45_Pro46insIleVal
NM_000070.3:c.1665_1670dup MANE Select	NP_000061.1:p.Val557_Pro558insIleVal
NM_024344.2:c.1665_1670dup	NP_077320.1:p.Val557_Pro558insIleVal
NM_173087.2:c.1521_1526dup	NP_775110.1:p.Val509_Pro510insIleVal
NM_173088.2:c.129_134dup	NP_775111.1:p.Val45_Pro46insIleVal