Canonical Allele Identifier: CA2628031922

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42402018-T-TGACCCCCAGGCACCTGTTCTGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402019_42402020insACCCCCAGGCACCTGTTCTGCCAG , CM000677.2:g.42402019_42402020insACCCCCAGGCACCTGTTCTGCCAG	GRCh38
NC_000015.9:g.42694217_42694218insACCCCCAGGCACCTGTTCTGCCAG , CM000677.1:g.42694217_42694218insACCCCCAGGCACCTGTTCTGCCAG	GRCh37
NC_000015.8:g.40481509_40481510insACCCCCAGGCACCTGTTCTGCCAG	NCBI36
NG_008660.1:g.58917_58918insACCCCCAGGCACCTGTTCTGCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1381-105_1381-104insACCCCCAGGCACCTGTTCTGCCAG	ENSP00000183936.4:n.1381-105_1381-104insACCCCCAGGCACCTGTTCTGC...
ENST00000357568.8:c.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG	ENSP00000350181.3:n.1525-105_1525-104insACCCCCAGGCACCTGTTCTGC...
ENST00000397163.8:c.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG MANE Select	ENSP00000380349.3:n.1525-105_1525-104insACCCCCAGGCACCTGTTCTGC...
ENST00000466369.5:n.2034-105_2034-104insACCCCCAGGCACCTGTTCTGCCAG
ENST00000483208.5:n.1756-105_1756-104insACCCCCAGGCACCTGTTCTGCCAG
ENST00000495723.1:n.1756-105_1756-104insACCCCCAGGCACCTGTTCTGCCAG
ENST00000549793.5:n.1756-105_1756-104insACCCCCAGGCACCTGTTCTGCCAG
ENST00000638141.2:n.1396-105_1396-104insACCCCCAGGCACCTGTTCTGCCAG
ENST00000673705.1:c.309+2367_309+2368insACCCCCAGGCACCTGTTCTGCCAG	ENSP00000501021.1:n.309+2367_309+2368insACCCCCAGGCACCTGTTCTGC...
ENST00000673813.1:n.23+91_23+92insACCCCCAGGCACCTGTTCTGCCAG
ENST00000318023.11:c.1381-105_1381-104insACCCCCAGGCACCTGTTCTGCCAG	ENSP00000326281.8:n.1381-105_1381-104insACCCCCAGGCACCTGTTCTGC...
ENST00000349748.7:c.1381-105_1381-104insACCCCCAGGCACCTGTTCTGCCAG	ENSP00000183936.4:n.1381-105_1381-104insACCCCCAGGCACCTGTTCTGC...
ENST00000357568.7:c.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG	ENSP00000350181.3:n.1525-105_1525-104insACCCCCAGGCACCTGTTCTGC...
ENST00000397163.7:c.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG	ENSP00000380349.3:n.1525-105_1525-104insACCCCCAGGCACCTGTTCTGC...
NM_000070.2:c.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG	NP_000061.1:n.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG
NM_024344.1:c.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG	NP_077320.1:n.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG
NM_173087.1:c.1381-105_1381-104insACCCCCAGGCACCTGTTCTGCCAG	NP_775110.1:n.1381-105_1381-104insACCCCCAGGCACCTGTTCTGCCAG
NM_000070.3:c.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG MANE Select	NP_000061.1:n.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG
NM_024344.2:c.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG	NP_077320.1:n.1525-105_1525-104insACCCCCAGGCACCTGTTCTGCCAG
NM_173087.2:c.1381-105_1381-104insACCCCCAGGCACCTGTTCTGCCAG	NP_775110.1:n.1381-105_1381-104insACCCCCAGGCACCTGTTCTGCCAG