Canonical Allele Identifier: CA2172719074

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401752_42401754delinsGGC , CM000677.2:g.42401752_42401754delinsGGC	GRCh38
NC_000015.9:g.42693950_42693952delinsGGC , CM000677.1:g.42693950_42693952delinsGGC	GRCh37
NC_000015.8:g.40481242_40481244delinsGGC	NCBI36
NG_008660.1:g.58650_58652delinsGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.1322_1324delinsGGC	ENSP00000183936.4:p.Arg441=
ENST00000357568.8:c.1466_1468delinsGGC	ENSP00000350181.3:p.Arg489=
ENST00000397163.8:c.1466_1468delinsGGC MANE Select	ENSP00000380349.3:p.Arg489=
ENST00000466369.5:n.1975_1977delinsGGC
ENST00000483208.5:n.1697_1699delinsGGC
ENST00000495723.1:n.1697_1699delinsGGC
ENST00000549793.5:n.1697_1699delinsGGC
ENST00000638141.2:n.1337_1339delinsGGC
ENST00000673705.1:c.309+2100_309+2102delinsGGC	ENSP00000501021.1:n.309+2100_309+2102deli...
ENST00000318023.11:c.1322_1324delinsGGC	ENSP00000326281.8:p.Arg441=
ENST00000349748.7:c.1322_1324delinsGGC	ENSP00000183936.4:p.Arg441=
ENST00000357568.7:c.1466_1468delinsGGC	ENSP00000350181.3:p.Arg489=
ENST00000397163.7:c.1466_1468delinsGGC	ENSP00000380349.3:p.Arg489=
NM_000070.2:c.1466_1468delinsGGC	NP_000061.1:p.Arg489=
NM_024344.1:c.1466_1468delinsGGC	NP_077320.1:p.Arg489=
NM_173087.1:c.1322_1324delinsGGC	NP_775110.1:p.Arg441=
NM_000070.3:c.1466_1468delinsGGC MANE Select	NP_000061.1:p.Arg489=
NM_024344.2:c.1466_1468delinsGGC	NP_077320.1:p.Arg489=
NM_173087.2:c.1322_1324delinsGGC	NP_775110.1:p.Arg441=