Canonical Allele Identifier: CA2803911480

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401469_42401470insCGCGGGGGG , CM000677.2:g.42401469_42401470insCGCGGGGGG	GRCh38
NC_000015.9:g.42693667_42693668insCGCGGGGGG , CM000677.1:g.42693667_42693668insCGCGGGGGG	GRCh37
NC_000015.8:g.40480959_40480960insCGCGGGGGG	NCBI36
NG_008660.1:g.58367_58368insCGCGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-172_1211-171insCGCGGGGGG	ENSP00000183936.4:n.1211-172_1211-171insCGCGGGGGG
ENST00000357568.8:c.1355-172_1355-171insCGCGGGGGG	ENSP00000350181.3:n.1355-172_1355-171insCGCGGGGGG
ENST00000397163.8:c.1355-172_1355-171insCGCGGGGGG MANE Select	ENSP00000380349.3:n.1355-172_1355-171insCGCGGGGGG
ENST00000466369.5:n.1864-172_1864-171insCGCGGGGGG
ENST00000483208.5:n.1586-172_1586-171insCGCGGGGGG
ENST00000495723.1:n.1586-172_1586-171insCGCGGGGGG
ENST00000549793.5:n.1586-172_1586-171insCGCGGGGGG
ENST00000638141.2:n.1226-172_1226-171insCGCGGGGGG
ENST00000673705.1:c.309+1817_309+1818insCGCGGGGGG	ENSP00000501021.1:n.309+1817_309+1818insCGCGGGGGG
ENST00000318023.11:c.1211-172_1211-171insCGCGGGGGG	ENSP00000326281.8:n.1211-172_1211-171insCGCGGGGGG
ENST00000349748.7:c.1211-172_1211-171insCGCGGGGGG	ENSP00000183936.4:n.1211-172_1211-171insCGCGGGGGG
ENST00000357568.7:c.1355-172_1355-171insCGCGGGGGG	ENSP00000350181.3:n.1355-172_1355-171insCGCGGGGGG
ENST00000397163.7:c.1355-172_1355-171insCGCGGGGGG	ENSP00000380349.3:n.1355-172_1355-171insCGCGGGGGG
NM_000070.2:c.1355-172_1355-171insCGCGGGGGG	NP_000061.1:n.1355-172_1355-171insCGCGGGGGG
NM_024344.1:c.1355-172_1355-171insCGCGGGGGG	NP_077320.1:n.1355-172_1355-171insCGCGGGGGG
NM_173087.1:c.1211-172_1211-171insCGCGGGGGG	NP_775110.1:n.1211-172_1211-171insCGCGGGGGG
NM_000070.3:c.1355-172_1355-171insCGCGGGGGG MANE Select	NP_000061.1:n.1355-172_1355-171insCGCGGGGGG
NM_024344.2:c.1355-172_1355-171insCGCGGGGGG	NP_077320.1:n.1355-172_1355-171insCGCGGGGGG
NM_173087.2:c.1211-172_1211-171insCGCGGGGGG	NP_775110.1:n.1211-172_1211-171insCGCGGGGGG