Canonical Allele Identifier: CA912980494

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42695164_42695165del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402966_42402967del , CM000677.2:g.42402966_42402967del	GRCh38
NC_000015.9:g.42695164_42695165del , CM000677.1:g.42695164_42695165del	GRCh37
NC_000015.8:g.40482456_40482457del	NCBI36
NG_008660.1:g.59864_59865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1565_1566del	ENSP00000183936.4:p.Ile522ThrfsTer6
ENST00000357568.8:c.1709_1710del	ENSP00000350181.3:p.Ile570ThrfsTer6
ENST00000397163.8:c.1709_1710del MANE Select	ENSP00000380349.3:p.Ile570ThrfsTer6
ENST00000466369.5:n.2218_2219del
ENST00000483208.5:n.2598_2599del
ENST00000495723.1:n.2598_2599del
ENST00000549793.5:n.1940_1941del
ENST00000638141.2:n.1580_1581del
ENST00000673646.1:c.173_174del	ENSP00000501007.1:p.Ile58ThrfsTer6
ENST00000673705.1:c.309+3314_309+3315del	ENSP00000501021.1:n.309+3314_309+3315del
ENST00000673813.1:n.580+51_580+52del
ENST00000318023.11:c.1565_1566del	ENSP00000326281.8:p.Ile522ThrfsTer6
ENST00000349748.7:c.1565_1566del	ENSP00000183936.4:p.Ile522ThrfsTer6
ENST00000357568.7:c.1709_1710del	ENSP00000350181.3:p.Ile570ThrfsTer6
ENST00000397163.7:c.1709_1710del	ENSP00000380349.3:p.Ile570ThrfsTer6
ENST00000397200.8:c.173_174del	ENSP00000380384.4:p.Ile58ThrfsTer6
ENST00000567071.5:c.168_169del
ENST00000569827.5:c.173_174del	ENSP00000454379.1:p.Ile58ThrfsTer6
NM_000070.2:c.1709_1710del	NP_000061.1:p.Ile570ThrfsTer6
NM_024344.1:c.1709_1710del	NP_077320.1:p.Ile570ThrfsTer6
NM_173087.1:c.1565_1566del	NP_775110.1:p.Ile522ThrfsTer6
NM_173088.1:c.173_174del	NP_775111.1:p.Ile58ThrfsTer6
NM_000070.3:c.1709_1710del MANE Select	NP_000061.1:p.Ile570ThrfsTer6
NM_024344.2:c.1709_1710del	NP_077320.1:p.Ile570ThrfsTer6
NM_173087.2:c.1565_1566del	NP_775110.1:p.Ile522ThrfsTer6
NM_173088.2:c.173_174del	NP_775111.1:p.Ile58ThrfsTer6