Canonical Allele Identifier: CA2172718471

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401449_42401450delinsCA , CM000677.2:g.42401449_42401450delinsCA	GRCh38
NC_000015.9:g.42693647_42693648delinsCA , CM000677.1:g.42693647_42693648delinsCA	GRCh37
NC_000015.8:g.40480939_40480940delinsCA	NCBI36
NG_008660.1:g.58347_58348delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-192_1211-191delinsCA	ENSP00000183936.4:n.1211-192_1211-191delinsCA
ENST00000357568.8:c.1355-192_1355-191delinsCA	ENSP00000350181.3:n.1355-192_1355-191delinsCA
ENST00000397163.8:c.1355-192_1355-191delinsCA MANE Select	ENSP00000380349.3:n.1355-192_1355-191delinsCA
ENST00000466369.5:n.1864-192_1864-191delinsCA
ENST00000483208.5:n.1586-192_1586-191delinsCA
ENST00000495723.1:n.1586-192_1586-191delinsCA
ENST00000549793.5:n.1586-192_1586-191delinsCA
ENST00000638141.2:n.1226-192_1226-191delinsCA
ENST00000673705.1:c.309+1797_309+1798delinsCA	ENSP00000501021.1:n.309+1797_309+1798delinsCA
ENST00000318023.11:c.1211-192_1211-191delinsCA	ENSP00000326281.8:n.1211-192_1211-191delinsCA
ENST00000349748.7:c.1211-192_1211-191delinsCA	ENSP00000183936.4:n.1211-192_1211-191delinsCA
ENST00000357568.7:c.1355-192_1355-191delinsCA	ENSP00000350181.3:n.1355-192_1355-191delinsCA
ENST00000397163.7:c.1355-192_1355-191delinsCA	ENSP00000380349.3:n.1355-192_1355-191delinsCA
NM_000070.2:c.1355-192_1355-191delinsCA	NP_000061.1:n.1355-192_1355-191delinsCA
NM_024344.1:c.1355-192_1355-191delinsCA	NP_077320.1:n.1355-192_1355-191delinsCA
NM_173087.1:c.1211-192_1211-191delinsCA	NP_775110.1:n.1211-192_1211-191delinsCA
NM_000070.3:c.1355-192_1355-191delinsCA MANE Select	NP_000061.1:n.1355-192_1355-191delinsCA
NM_024344.2:c.1355-192_1355-191delinsCA	NP_077320.1:n.1355-192_1355-191delinsCA
NM_173087.2:c.1211-192_1211-191delinsCA	NP_775110.1:n.1211-192_1211-191delinsCA