Canonical Allele Identifier: CA2172714780

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402999_42403003delinsCTGAG , CM000677.2:g.42402999_42403003delinsCTGAG	GRCh38
NC_000015.9:g.42695197_42695201delinsCTGAG , CM000677.1:g.42695197_42695201delinsCTGAG	GRCh37
NC_000015.8:g.40482489_40482493delinsCTGAG	NCBI36
NG_008660.1:g.59897_59901delinsCTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1598_1601+1delinsCTGAG
ENST00000357568.8:c.1742_1745+1delinsCTGAG
ENST00000397163.8:c.1742_1745+1delinsCTGAG
ENST00000466369.5:n.2251_2254+1delinsCTGAG
ENST00000483208.5:n.2631_2634+1delinsCTGAG
ENST00000495723.1:n.2631_2634+1delinsCTGAG
ENST00000549793.5:n.1973_1976+1delinsCTGAG
ENST00000638141.2:n.1613_1616+1delinsCTGAG
ENST00000673646.1:c.206_209+1delinsCTGAG
ENST00000673705.1:c.309+3347_309+3351delinsCTGAG	ENSP00000501021.1:n.309+3347_309+3351delinsCTGAG
ENST00000673813.1:n.580+84_580+88delinsCTGAG
ENST00000318023.11:c.1598_1601+1delinsCTGAG
ENST00000349748.7:c.1598_1601+1delinsCTGAG
ENST00000357568.7:c.1742_1745+1delinsCTGAG
ENST00000397163.7:c.1742_1745+1delinsCTGAG
ENST00000397200.8:c.206_209+1delinsCTGAG
ENST00000567071.5:c.201_204+1delinsCTGAG
ENST00000569827.5:c.206_209+1delinsCTGAG
NM_000070.2:c.1742_1745+1delinsCTGAG
NM_024344.1:c.1742_1745+1delinsCTGAG
NM_173087.1:c.1598_1601+1delinsCTGAG
NM_173088.1:c.206_209+1delinsCTGAG
NM_000070.3:c.1742_1745+1delinsCTGAG
NM_024344.2:c.1742_1745+1delinsCTGAG
NM_173087.2:c.1598_1601+1delinsCTGAG
NM_173088.2:c.206_209+1delinsCTGAG