Canonical Allele Identifier: CA2172714781

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402999_42403001delinsCTG , CM000677.2:g.42402999_42403001delinsCTG	GRCh38
NC_000015.9:g.42695197_42695199delinsCTG , CM000677.1:g.42695197_42695199delinsCTG	GRCh37
NC_000015.8:g.40482489_40482491delinsCTG	NCBI36
NG_008660.1:g.59897_59899delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1598_1600delinsCTG	ENSP00000183936.4:p.Ser533=
ENST00000357568.8:c.1742_1744delinsCTG	ENSP00000350181.3:p.Ser581=
ENST00000397163.8:c.1742_1744delinsCTG MANE Select	ENSP00000380349.3:p.Ser581=
ENST00000466369.5:n.2251_2253delinsCTG
ENST00000483208.5:n.2631_2633delinsCTG
ENST00000495723.1:n.2631_2633delinsCTG
ENST00000549793.5:n.1973_1975delinsCTG
ENST00000638141.2:n.1613_1615delinsCTG
ENST00000673646.1:c.206_208delinsCTG	ENSP00000501007.1:p.Ser69=
ENST00000673705.1:c.309+3347_309+3349delinsCTG	ENSP00000501021.1:n.309+3347_309+3349delinsCTG
ENST00000673813.1:n.580+84_580+86delinsCTG
ENST00000318023.11:c.1598_1600delinsCTG	ENSP00000326281.8:p.Ser533=
ENST00000349748.7:c.1598_1600delinsCTG	ENSP00000183936.4:p.Ser533=
ENST00000357568.7:c.1742_1744delinsCTG	ENSP00000350181.3:p.Ser581=
ENST00000397163.7:c.1742_1744delinsCTG	ENSP00000380349.3:p.Ser581=
ENST00000397200.8:c.206_208delinsCTG	ENSP00000380384.4:p.Ser69=
ENST00000567071.5:c.201_203delinsCTG
ENST00000569827.5:c.206_208delinsCTG	ENSP00000454379.1:p.Ser69=
NM_000070.2:c.1742_1744delinsCTG	NP_000061.1:p.Ser581=
NM_024344.1:c.1742_1744delinsCTG	NP_077320.1:p.Ser581=
NM_173087.1:c.1598_1600delinsCTG	NP_775110.1:p.Ser533=
NM_173088.1:c.206_208delinsCTG	NP_775111.1:p.Ser69=
NM_000070.3:c.1742_1744delinsCTG MANE Select	NP_000061.1:p.Ser581=
NM_024344.2:c.1742_1744delinsCTG	NP_077320.1:p.Ser581=
NM_173087.2:c.1598_1600delinsCTG	NP_775110.1:p.Ser533=
NM_173088.2:c.206_208delinsCTG	NP_775111.1:p.Ser69=