Canonical Allele Identifier: CA658824247

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 555478
• ClinVar RCV Id: RCV000671304
• dbSNP Id: rs1555422298
• MyVariant Identifiers: chr15:g.42402947_42402950dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402947_42402950dup , CM000677.2:g.42402947_42402950dup	GRCh38
NC_000015.9:g.42695145_42695148dup , CM000677.1:g.42695145_42695148dup	GRCh37
NC_000015.8:g.40482437_40482440dup	NCBI36
NG_008660.1:g.59845_59848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1546_1549dup	ENSP00000183936.4:p.Gln517ProfsTer13
ENST00000357568.8:c.1690_1693dup	ENSP00000350181.3:p.Gln565ProfsTer13
ENST00000397163.8:c.1690_1693dup MANE Select	ENSP00000380349.3:p.Gln565ProfsTer13
ENST00000466369.5:n.2199_2202dup
ENST00000483208.5:n.2579_2582dup
ENST00000495723.1:n.2579_2582dup
ENST00000549793.5:n.1921_1924dup
ENST00000638141.2:n.1561_1564dup
ENST00000673646.1:c.154_157dup	ENSP00000501007.1:p.Gln53ProfsTer13
ENST00000673705.1:c.309+3295_309+3298dup	ENSP00000501021.1:n.309+3295_309+3298dup
ENST00000673813.1:n.580+32_580+35dup
ENST00000318023.11:c.1546_1549dup	ENSP00000326281.8:p.Gln517ProfsTer13
ENST00000349748.7:c.1546_1549dup	ENSP00000183936.4:p.Gln517ProfsTer13
ENST00000357568.7:c.1690_1693dup	ENSP00000350181.3:p.Gln565ProfsTer13
ENST00000397163.7:c.1690_1693dup	ENSP00000380349.3:p.Gln565ProfsTer13
ENST00000397200.8:c.154_157dup	ENSP00000380384.4:p.Gln53ProfsTer13
ENST00000567071.5:c.149_152dup
ENST00000569827.5:c.154_157dup	ENSP00000454379.1:p.Gln53ProfsTer13
NM_000070.2:c.1690_1693dup	NP_000061.1:p.Gln565ProfsTer13
NM_024344.1:c.1690_1693dup	NP_077320.1:p.Gln565ProfsTer13
NM_173087.1:c.1546_1549dup	NP_775110.1:p.Gln517ProfsTer13
NM_173088.1:c.154_157dup	NP_775111.1:p.Gln53ProfsTer13
NM_000070.3:c.1690_1693dup MANE Select	NP_000061.1:p.Gln565ProfsTer13
NM_024344.2:c.1690_1693dup	NP_077320.1:p.Gln565ProfsTer13
NM_173087.2:c.1546_1549dup	NP_775110.1:p.Gln517ProfsTer13
NM_173088.2:c.154_157dup	NP_775111.1:p.Gln53ProfsTer13