Canonical Allele Identifier: CA2172718670

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053863075

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401482_42401483insGC , CM000677.2:g.42401482_42401483insGC	GRCh38
NC_000015.9:g.42693680_42693681insGC , CM000677.1:g.42693680_42693681insGC	GRCh37
NC_000015.8:g.40480972_40480973insGC	NCBI36
NG_008660.1:g.58380_58381insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-159_1211-158insGC	ENSP00000183936.4:n.1211-159_1211-158insGC
ENST00000357568.8:c.1355-159_1355-158insGC	ENSP00000350181.3:n.1355-159_1355-158insGC
ENST00000397163.8:c.1355-159_1355-158insGC MANE Select	ENSP00000380349.3:n.1355-159_1355-158insGC
ENST00000466369.5:n.1864-159_1864-158insGC
ENST00000483208.5:n.1586-159_1586-158insGC
ENST00000495723.1:n.1586-159_1586-158insGC
ENST00000549793.5:n.1586-159_1586-158insGC
ENST00000638141.2:n.1226-159_1226-158insGC
ENST00000673705.1:c.309+1830_309+1831insGC	ENSP00000501021.1:n.309+1830_309+1831insGC
ENST00000318023.11:c.1211-159_1211-158insGC	ENSP00000326281.8:n.1211-159_1211-158insGC
ENST00000349748.7:c.1211-159_1211-158insGC	ENSP00000183936.4:n.1211-159_1211-158insGC
ENST00000357568.7:c.1355-159_1355-158insGC	ENSP00000350181.3:n.1355-159_1355-158insGC
ENST00000397163.7:c.1355-159_1355-158insGC	ENSP00000380349.3:n.1355-159_1355-158insGC
NM_000070.2:c.1355-159_1355-158insGC	NP_000061.1:n.1355-159_1355-158insGC
NM_024344.1:c.1355-159_1355-158insGC	NP_077320.1:n.1355-159_1355-158insGC
NM_173087.1:c.1211-159_1211-158insGC	NP_775110.1:n.1211-159_1211-158insGC
NM_000070.3:c.1355-159_1355-158insGC MANE Select	NP_000061.1:n.1355-159_1355-158insGC
NM_024344.2:c.1355-159_1355-158insGC	NP_077320.1:n.1355-159_1355-158insGC
NM_173087.2:c.1211-159_1211-158insGC	NP_775110.1:n.1211-159_1211-158insGC