Canonical Allele Identifier: CA2172718454

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401439_42401440delinsAC , CM000677.2:g.42401439_42401440delinsAC	GRCh38
NC_000015.9:g.42693637_42693638delinsAC , CM000677.1:g.42693637_42693638delinsAC	GRCh37
NC_000015.8:g.40480929_40480930delinsAC	NCBI36
NG_008660.1:g.58337_58338delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-202_1211-201delinsAC	ENSP00000183936.4:n.1211-202_1211-201delinsAC
ENST00000357568.8:c.1355-202_1355-201delinsAC	ENSP00000350181.3:n.1355-202_1355-201delinsAC
ENST00000397163.8:c.1355-202_1355-201delinsAC MANE Select	ENSP00000380349.3:n.1355-202_1355-201delinsAC
ENST00000466369.5:n.1864-202_1864-201delinsAC
ENST00000483208.5:n.1586-202_1586-201delinsAC
ENST00000495723.1:n.1586-202_1586-201delinsAC
ENST00000549793.5:n.1586-202_1586-201delinsAC
ENST00000638141.2:n.1226-202_1226-201delinsAC
ENST00000673705.1:c.309+1787_309+1788delinsAC	ENSP00000501021.1:n.309+1787_309+1788delinsAC
ENST00000318023.11:c.1211-202_1211-201delinsAC	ENSP00000326281.8:n.1211-202_1211-201delinsAC
ENST00000349748.7:c.1211-202_1211-201delinsAC	ENSP00000183936.4:n.1211-202_1211-201delinsAC
ENST00000357568.7:c.1355-202_1355-201delinsAC	ENSP00000350181.3:n.1355-202_1355-201delinsAC
ENST00000397163.7:c.1355-202_1355-201delinsAC	ENSP00000380349.3:n.1355-202_1355-201delinsAC
NM_000070.2:c.1355-202_1355-201delinsAC	NP_000061.1:n.1355-202_1355-201delinsAC
NM_024344.1:c.1355-202_1355-201delinsAC	NP_077320.1:n.1355-202_1355-201delinsAC
NM_173087.1:c.1211-202_1211-201delinsAC	NP_775110.1:n.1211-202_1211-201delinsAC
NM_000070.3:c.1355-202_1355-201delinsAC MANE Select	NP_000061.1:n.1355-202_1355-201delinsAC
NM_024344.2:c.1355-202_1355-201delinsAC	NP_077320.1:n.1355-202_1355-201delinsAC
NM_173087.2:c.1211-202_1211-201delinsAC	NP_775110.1:n.1211-202_1211-201delinsAC