Canonical Allele Identifier: CA2172718517

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401472_42401473delinsCG , CM000677.2:g.42401472_42401473delinsCG	GRCh38
NC_000015.9:g.42693670_42693671delinsCG , CM000677.1:g.42693670_42693671delinsCG	GRCh37
NC_000015.8:g.40480962_40480963delinsCG	NCBI36
NG_008660.1:g.58370_58371delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-169_1211-168delinsCG	ENSP00000183936.4:n.1211-169_1211-168delinsCG
ENST00000357568.8:c.1355-169_1355-168delinsCG	ENSP00000350181.3:n.1355-169_1355-168delinsCG
ENST00000397163.8:c.1355-169_1355-168delinsCG MANE Select	ENSP00000380349.3:n.1355-169_1355-168delinsCG
ENST00000466369.5:n.1864-169_1864-168delinsCG
ENST00000483208.5:n.1586-169_1586-168delinsCG
ENST00000495723.1:n.1586-169_1586-168delinsCG
ENST00000549793.5:n.1586-169_1586-168delinsCG
ENST00000638141.2:n.1226-169_1226-168delinsCG
ENST00000673705.1:c.309+1820_309+1821delinsCG	ENSP00000501021.1:n.309+1820_309+1821delinsCG
ENST00000318023.11:c.1211-169_1211-168delinsCG	ENSP00000326281.8:n.1211-169_1211-168delinsCG
ENST00000349748.7:c.1211-169_1211-168delinsCG	ENSP00000183936.4:n.1211-169_1211-168delinsCG
ENST00000357568.7:c.1355-169_1355-168delinsCG	ENSP00000350181.3:n.1355-169_1355-168delinsCG
ENST00000397163.7:c.1355-169_1355-168delinsCG	ENSP00000380349.3:n.1355-169_1355-168delinsCG
NM_000070.2:c.1355-169_1355-168delinsCG	NP_000061.1:n.1355-169_1355-168delinsCG
NM_024344.1:c.1355-169_1355-168delinsCG	NP_077320.1:n.1355-169_1355-168delinsCG
NM_173087.1:c.1211-169_1211-168delinsCG	NP_775110.1:n.1211-169_1211-168delinsCG
NM_000070.3:c.1355-169_1355-168delinsCG MANE Select	NP_000061.1:n.1355-169_1355-168delinsCG
NM_024344.2:c.1355-169_1355-168delinsCG	NP_077320.1:n.1355-169_1355-168delinsCG
NM_173087.2:c.1211-169_1211-168delinsCG	NP_775110.1:n.1211-169_1211-168delinsCG