Canonical Allele Identifier: CA2628032004

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42402910-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402911del , CM000677.2:g.42402911del	GRCh38
NC_000015.9:g.42695109del , CM000677.1:g.42695109del	GRCh37
NC_000015.8:g.40482401del	NCBI36
NG_008660.1:g.59809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1510del	ENSP00000183936.4:p.Ser504AlafsTer?
ENST00000357568.8:c.1654del	ENSP00000350181.3:p.Ser552AlafsTer?
ENST00000397163.8:c.1654del MANE Select	ENSP00000380349.3:p.Ser552AlafsTer?
ENST00000466369.5:n.2163del
ENST00000483208.5:n.2543del
ENST00000495723.1:n.2543del
ENST00000549793.5:n.1885del
ENST00000638141.2:n.1525del
ENST00000673646.1:c.118del	ENSP00000501007.1:p.Ser40AlafsTer?
ENST00000673705.1:c.309+3259del	ENSP00000501021.1:n.309+3259del
ENST00000673813.1:n.576del
ENST00000318023.11:c.1510del	ENSP00000326281.8:p.Ser504AlafsTer?
ENST00000349748.7:c.1510del	ENSP00000183936.4:p.Ser504AlafsTer?
ENST00000357568.7:c.1654del	ENSP00000350181.3:p.Ser552AlafsTer?
ENST00000397163.7:c.1654del	ENSP00000380349.3:p.Ser552AlafsTer?
ENST00000397200.8:c.118del	ENSP00000380384.4:p.Ser40AlafsTer?
ENST00000567071.5:c.113del
ENST00000569827.5:c.118del	ENSP00000454379.1:p.Ser40AlafsTer?
NM_000070.2:c.1654del	NP_000061.1:p.Ser552AlafsTer?
NM_024344.1:c.1654del	NP_077320.1:p.Ser552AlafsTer?
NM_173087.1:c.1510del	NP_775110.1:p.Ser504AlafsTer?
NM_173088.1:c.118del	NP_775111.1:p.Ser40AlafsTer?
NM_000070.3:c.1654del MANE Select	NP_000061.1:p.Ser552AlafsTer?
NM_024344.2:c.1654del	NP_077320.1:p.Ser552AlafsTer?
NM_173087.2:c.1510del	NP_775110.1:p.Ser504AlafsTer?
NM_173088.2:c.118del	NP_775111.1:p.Ser40AlafsTer?