Canonical Allele Identifier: CA2172718355

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401316_42401319delinsAGAG , CM000677.2:g.42401316_42401319delinsAGAG	GRCh38
NC_000015.9:g.42693514_42693517delinsAGAG , CM000677.1:g.42693514_42693517delinsAGAG	GRCh37
NC_000015.8:g.40480806_40480809delinsAGAG	NCBI36
NG_008660.1:g.58214_58217delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-325_1211-322delinsAGAG	ENSP00000183936.4:n.1211-325_1211-322delinsAGAG
ENST00000357568.8:c.1355-325_1355-322delinsAGAG	ENSP00000350181.3:n.1355-325_1355-322delinsAGAG
ENST00000397163.8:c.1355-325_1355-322delinsAGAG MANE Select	ENSP00000380349.3:n.1355-325_1355-322delinsAGAG
ENST00000466369.5:n.1864-325_1864-322delinsAGAG
ENST00000483208.5:n.1586-325_1586-322delinsAGAG
ENST00000495723.1:n.1586-325_1586-322delinsAGAG
ENST00000549793.5:n.1586-325_1586-322delinsAGAG
ENST00000638141.2:n.1226-325_1226-322delinsAGAG
ENST00000673705.1:c.309+1664_309+1667delinsAGAG	ENSP00000501021.1:n.309+1664_309+1667delinsAGAG
ENST00000318023.11:c.1211-325_1211-322delinsAGAG	ENSP00000326281.8:n.1211-325_1211-322delinsAGAG
ENST00000349748.7:c.1211-325_1211-322delinsAGAG	ENSP00000183936.4:n.1211-325_1211-322delinsAGAG
ENST00000357568.7:c.1355-325_1355-322delinsAGAG	ENSP00000350181.3:n.1355-325_1355-322delinsAGAG
ENST00000397163.7:c.1355-325_1355-322delinsAGAG	ENSP00000380349.3:n.1355-325_1355-322delinsAGAG
NM_000070.2:c.1355-325_1355-322delinsAGAG	NP_000061.1:n.1355-325_1355-322delinsAGAG
NM_024344.1:c.1355-325_1355-322delinsAGAG	NP_077320.1:n.1355-325_1355-322delinsAGAG
NM_173087.1:c.1211-325_1211-322delinsAGAG	NP_775110.1:n.1211-325_1211-322delinsAGAG
NM_000070.3:c.1355-325_1355-322delinsAGAG MANE Select	NP_000061.1:n.1355-325_1355-322delinsAGAG
NM_024344.2:c.1355-325_1355-322delinsAGAG	NP_077320.1:n.1355-325_1355-322delinsAGAG
NM_173087.2:c.1211-325_1211-322delinsAGAG	NP_775110.1:n.1211-325_1211-322delinsAGAG