Canonical Allele Identifier: CA269835030

Gene: CAPN3

Linked Data

• dbSNP Id: rs766523095
• gnomAD v4: 15-42389019-AG-A
• MyVariant Identifiers: chr15:g.42681218del (hg19) ; chr15:g.42389020del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389022del , CM000677.2:g.42389022del	GRCh38
NC_000015.9:g.42681220del , CM000677.1:g.42681220del	GRCh37
NC_000015.8:g.40468512del	NCBI36
NG_008660.1:g.45920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.727del	ENSP00000183936.4:p.Asp243MetfsTer10
ENST00000357568.8:c.727del	ENSP00000350181.3:p.Asp243MetfsTer10
ENST00000397163.8:c.727del MANE Select	ENSP00000380349.3:p.Asp243MetfsTer10
ENST00000466369.5:n.1236del
ENST00000483208.5:n.958del
ENST00000495723.1:n.958del
ENST00000549793.5:n.958del
ENST00000638141.2:n.742del
ENST00000673705.1:c.70+4470del	ENSP00000501021.1:n.70+4470del
ENST00000318023.11:c.727del	ENSP00000326281.8:p.Asp243MetfsTer10
ENST00000349748.7:c.727del	ENSP00000183936.4:p.Asp243MetfsTer10
ENST00000357568.7:c.727del	ENSP00000350181.3:p.Asp243MetfsTer10
ENST00000397163.7:c.727del	ENSP00000380349.3:p.Asp243MetfsTer10
NM_000070.2:c.727del	NP_000061.1:p.Asp243MetfsTer10
NM_024344.1:c.727del	NP_077320.1:p.Asp243MetfsTer10
NM_173087.1:c.727del	NP_775110.1:p.Asp243MetfsTer10
NM_000070.3:c.727del MANE Select	NP_000061.1:p.Asp243MetfsTer10
NM_024344.2:c.727del	NP_077320.1:p.Asp243MetfsTer10
NM_173087.2:c.727del	NP_775110.1:p.Asp243MetfsTer10