Canonical Allele Identifier: CA2628027666

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42359959-CCTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359960_42359962del , CM000677.2:g.42359960_42359962del	GRCh38
NC_000015.9:g.42652158_42652160del , CM000677.1:g.42652158_42652160del	GRCh37
NC_000015.8:g.40439450_40439452del	NCBI36
NG_008660.1:g.16858_16860del

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.155_157del	ENSP00000183936.4:p.Pro52_Ile53delinsLeu
ENST00000357568.8:c.155_157del	ENSP00000350181.3:p.Pro52_Ile53delinsLeu
ENST00000397163.8:c.155_157del MANE Select	ENSP00000380349.3:p.Pro52_Ile53delinsLeu
ENST00000466369.5:n.540+5507_540+5509del
ENST00000483208.5:n.540+5507_540+5509del
ENST00000495723.1:n.540+5507_540+5509del
ENST00000549793.5:n.540+5507_540+5509del
ENST00000318023.11:c.155_157del	ENSP00000326281.8:p.Pro52_Ile53delinsLeu
ENST00000349748.7:c.155_157del	ENSP00000183936.4:p.Pro52_Ile53delinsLeu
ENST00000357568.7:c.155_157del	ENSP00000350181.3:p.Pro52_Ile53delinsLeu
ENST00000397163.7:c.155_157del	ENSP00000380349.3:p.Pro52_Ile53delinsLeu
NM_000070.2:c.155_157del	NP_000061.1:p.Pro52_Ile53delinsLeu
NM_024344.1:c.155_157del	NP_077320.1:p.Pro52_Ile53delinsLeu
NM_173087.1:c.155_157del	NP_775110.1:p.Pro52_Ile53delinsLeu
NM_000070.3:c.155_157del MANE Select	NP_000061.1:p.Pro52_Ile53delinsLeu
NM_024344.2:c.155_157del	NP_077320.1:p.Pro52_Ile53delinsLeu
NM_173087.2:c.155_157del	NP_775110.1:p.Pro52_Ile53delinsLeu