Canonical Allele Identifier: CA2582341782

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2585261
• ClinVar RCV Id: RCV003337877

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389023_42389057dup , CM000677.2:g.42389023_42389057dup	GRCh38
NC_000015.9:g.42681221_42681255dup , CM000677.1:g.42681221_42681255dup	GRCh37
NC_000015.8:g.40468513_40468547dup	NCBI36
NG_008660.1:g.45921_45955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.728_762dup	ENSP00000183936.4:p.Ala255MetfsTer10
ENST00000357568.8:c.728_762dup	ENSP00000350181.3:p.Ala255MetfsTer10
ENST00000397163.8:c.728_762dup MANE Select	ENSP00000380349.3:p.Ala255MetfsTer10
ENST00000466369.5:n.1237_1271dup
ENST00000483208.5:n.959_993dup
ENST00000495723.1:n.959_993dup
ENST00000549793.5:n.959_993dup
ENST00000638141.2:n.743_777dup
ENST00000673705.1:c.70+4471_70+4505dup	ENSP00000501021.1:n.70+4471_70+4505dup
ENST00000318023.11:c.728_762dup	ENSP00000326281.8:p.Ala255MetfsTer10
ENST00000349748.7:c.728_762dup	ENSP00000183936.4:p.Ala255MetfsTer10
ENST00000357568.7:c.728_762dup	ENSP00000350181.3:p.Ala255MetfsTer10
ENST00000397163.7:c.728_762dup	ENSP00000380349.3:p.Ala255MetfsTer10
NM_000070.2:c.728_762dup	NP_000061.1:p.Ala255MetfsTer10
NM_024344.1:c.728_762dup	NP_077320.1:p.Ala255MetfsTer10
NM_173087.1:c.728_762dup	NP_775110.1:p.Ala255MetfsTer10
NM_000070.3:c.728_762dup MANE Select	NP_000061.1:p.Ala255MetfsTer10
NM_024344.2:c.728_762dup	NP_077320.1:p.Ala255MetfsTer10
NM_173087.2:c.728_762dup	NP_775110.1:p.Ala255MetfsTer10