Canonical Allele Identifier: CA658798309

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 524090
• ClinVar RCV Id: RCV000627586
• dbSNP Id: rs1555420639
• MyVariant Identifiers: chr15:g.42681213dup (hg19) ; chr15:g.42389015dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389015dup , CM000677.2:g.42389015dup	GRCh38
NC_000015.9:g.42681213dup , CM000677.1:g.42681213dup	GRCh37
NC_000015.8:g.40468505dup	NCBI36
NG_008660.1:g.45913dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.720dup	ENSP00000183936.4:p.Ile241AspfsTer6
ENST00000357568.8:c.720dup	ENSP00000350181.3:p.Ile241AspfsTer6
ENST00000397163.8:c.720dup MANE Select	ENSP00000380349.3:p.Ile241AspfsTer6
ENST00000466369.5:n.1229dup
ENST00000483208.5:n.951dup
ENST00000495723.1:n.951dup
ENST00000549793.5:n.951dup
ENST00000638141.2:n.735dup
ENST00000673705.1:c.70+4463dup	ENSP00000501021.1:n.70+4463dup
ENST00000318023.11:c.720dup	ENSP00000326281.8:p.Ile241AspfsTer6
ENST00000349748.7:c.720dup	ENSP00000183936.4:p.Ile241AspfsTer6
ENST00000357568.7:c.720dup	ENSP00000350181.3:p.Ile241AspfsTer6
ENST00000397163.7:c.720dup	ENSP00000380349.3:p.Ile241AspfsTer6
NM_000070.2:c.720dup	NP_000061.1:p.Ile241AspfsTer6
NM_024344.1:c.720dup	NP_077320.1:p.Ile241AspfsTer6
NM_173087.1:c.720dup	NP_775110.1:p.Ile241AspfsTer6
NM_000070.3:c.720dup MANE Select	NP_000061.1:p.Ile241AspfsTer6
NM_024344.2:c.720dup	NP_077320.1:p.Ile241AspfsTer6
NM_173087.2:c.720dup	NP_775110.1:p.Ile241AspfsTer6