Canonical Allele Identifier: CA2172718474

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053858763

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401450_42401473del , CM000677.2:g.42401450_42401473del	GRCh38
NC_000015.9:g.42693648_42693671del , CM000677.1:g.42693648_42693671del	GRCh37
NC_000015.8:g.40480940_40480963del	NCBI36
NG_008660.1:g.58348_58371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-191_1211-168del	ENSP00000183936.4:n.1211-191_1211-168del
ENST00000357568.8:c.1355-191_1355-168del	ENSP00000350181.3:n.1355-191_1355-168del
ENST00000397163.8:c.1355-191_1355-168del MANE Select	ENSP00000380349.3:n.1355-191_1355-168del
ENST00000466369.5:n.1864-191_1864-168del
ENST00000483208.5:n.1586-191_1586-168del
ENST00000495723.1:n.1586-191_1586-168del
ENST00000549793.5:n.1586-191_1586-168del
ENST00000638141.2:n.1226-191_1226-168del
ENST00000673705.1:c.309+1798_309+1821del	ENSP00000501021.1:n.309+1798_309+1821del
ENST00000318023.11:c.1211-191_1211-168del	ENSP00000326281.8:n.1211-191_1211-168del
ENST00000349748.7:c.1211-191_1211-168del	ENSP00000183936.4:n.1211-191_1211-168del
ENST00000357568.7:c.1355-191_1355-168del	ENSP00000350181.3:n.1355-191_1355-168del
ENST00000397163.7:c.1355-191_1355-168del	ENSP00000380349.3:n.1355-191_1355-168del
NM_000070.2:c.1355-191_1355-168del	NP_000061.1:n.1355-191_1355-168del
NM_024344.1:c.1355-191_1355-168del	NP_077320.1:n.1355-191_1355-168del
NM_173087.1:c.1211-191_1211-168del	NP_775110.1:n.1211-191_1211-168del
NM_000070.3:c.1355-191_1355-168del MANE Select	NP_000061.1:n.1355-191_1355-168del
NM_024344.2:c.1355-191_1355-168del	NP_077320.1:n.1355-191_1355-168del
NM_173087.2:c.1211-191_1211-168del	NP_775110.1:n.1211-191_1211-168del