Canonical Allele Identifier: CA915946550

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 807217
• ClinVar RCV Id: RCV000995301 ; RCV002550676
• dbSNP Id: rs1595837172
• gnomAD v4: 15-42401770-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401771del , CM000677.2:g.42401771del	GRCh38
NC_000015.9:g.42693969del , CM000677.1:g.42693969del	GRCh37
NC_000015.8:g.40481261del	NCBI36
NG_008660.1:g.58669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1341del	ENSP00000183936.4:p.Ala449ProfsTer?
ENST00000357568.8:c.1485del	ENSP00000350181.3:p.Ala497ProfsTer?
ENST00000397163.8:c.1485del MANE Select	ENSP00000380349.3:p.Ala497ProfsTer?
ENST00000466369.5:n.1994del
ENST00000483208.5:n.1716del
ENST00000495723.1:n.1716del
ENST00000549793.5:n.1716del
ENST00000638141.2:n.1356del
ENST00000673705.1:c.309+2119del	ENSP00000501021.1:n.309+2119del
ENST00000318023.11:c.1341del	ENSP00000326281.8:p.Ala449ProfsTer?
ENST00000349748.7:c.1341del	ENSP00000183936.4:p.Ala449ProfsTer?
ENST00000357568.7:c.1485del	ENSP00000350181.3:p.Ala497ProfsTer?
ENST00000397163.7:c.1485del	ENSP00000380349.3:p.Ala497ProfsTer?
NM_000070.2:c.1485del	NP_000061.1:p.Ala497ProfsTer?
NM_024344.1:c.1485del	NP_077320.1:p.Ala497ProfsTer?
NM_173087.1:c.1341del	NP_775110.1:p.Ala449ProfsTer?
NM_000070.3:c.1485del MANE Select	NP_000061.1:p.Ala497ProfsTer?
NM_024344.2:c.1485del	NP_077320.1:p.Ala497ProfsTer?
NM_173087.2:c.1341del	NP_775110.1:p.Ala449ProfsTer?