Canonical Allele Identifier: CA2172719103

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401770_42401771delinsTA , CM000677.2:g.42401770_42401771delinsTA	GRCh38
NC_000015.9:g.42693968_42693969delinsTA , CM000677.1:g.42693968_42693969delinsTA	GRCh37
NC_000015.8:g.40481260_40481261delinsTA	NCBI36
NG_008660.1:g.58668_58669delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1340_1341delinsTA	ENSP00000183936.4:p.Leu447=
ENST00000357568.8:c.1484_1485delinsTA	ENSP00000350181.3:p.Leu495=
ENST00000397163.8:c.1484_1485delinsTA MANE Select	ENSP00000380349.3:p.Leu495=
ENST00000466369.5:n.1993_1994delinsTA
ENST00000483208.5:n.1715_1716delinsTA
ENST00000495723.1:n.1715_1716delinsTA
ENST00000549793.5:n.1715_1716delinsTA
ENST00000638141.2:n.1355_1356delinsTA
ENST00000673705.1:c.309+2118_309+2119delinsTA	ENSP00000501021.1:n.309+2118_309+2119delinsTA
ENST00000318023.11:c.1340_1341delinsTA	ENSP00000326281.8:p.Leu447=
ENST00000349748.7:c.1340_1341delinsTA	ENSP00000183936.4:p.Leu447=
ENST00000357568.7:c.1484_1485delinsTA	ENSP00000350181.3:p.Leu495=
ENST00000397163.7:c.1484_1485delinsTA	ENSP00000380349.3:p.Leu495=
NM_000070.2:c.1484_1485delinsTA	NP_000061.1:p.Leu495=
NM_024344.1:c.1484_1485delinsTA	NP_077320.1:p.Leu495=
NM_173087.1:c.1340_1341delinsTA	NP_775110.1:p.Leu447=
NM_000070.3:c.1484_1485delinsTA MANE Select	NP_000061.1:p.Leu495=
NM_024344.2:c.1484_1485delinsTA	NP_077320.1:p.Leu495=
NM_173087.2:c.1340_1341delinsTA	NP_775110.1:p.Leu447=