Canonical Allele Identifier: CA2172720323

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402785_42402787delinsATC , CM000677.2:g.42402785_42402787delinsATC	GRCh38
NC_000015.9:g.42694983_42694985delinsATC , CM000677.1:g.42694983_42694985delinsATC	GRCh37
NC_000015.8:g.40482275_40482277delinsATC	NCBI36
NG_008660.1:g.59683_59685delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1393-9_1393-7delinsATC	ENSP00000183936.4:n.1393-9_1393-7delinsATC
ENST00000357568.8:c.1537-9_1537-7delinsATC	ENSP00000350181.3:n.1537-9_1537-7delinsATC
ENST00000397163.8:c.1537-9_1537-7delinsATC MANE Select	ENSP00000380349.3:n.1537-9_1537-7delinsATC
ENST00000466369.5:n.2046-9_2046-7delinsATC
ENST00000483208.5:n.2417_2419delinsATC
ENST00000495723.1:n.2417_2419delinsATC
ENST00000549793.5:n.1768-9_1768-7delinsATC
ENST00000638141.2:n.1408-9_1408-7delinsATC
ENST00000673705.1:c.309+3133_309+3135delinsATC	ENSP00000501021.1:n.309+3133_309+3135delinsATC
ENST00000673813.1:n.459-9_459-7delinsATC
ENST00000318023.11:c.1393-9_1393-7delinsATC	ENSP00000326281.8:n.1393-9_1393-7delinsATC
ENST00000349748.7:c.1393-9_1393-7delinsATC	ENSP00000183936.4:n.1393-9_1393-7delinsATC
ENST00000357568.7:c.1537-9_1537-7delinsATC	ENSP00000350181.3:n.1537-9_1537-7delinsATC
ENST00000397163.7:c.1537-9_1537-7delinsATC	ENSP00000380349.3:n.1537-9_1537-7delinsATC
ENST00000397200.8:c.1-9_1-7delinsATC	ENSP00000380384.4:n.1-9_1-7delinsATC
ENST00000569827.5:c.1-9_1-7delinsATC	ENSP00000454379.1:n.1-9_1-7delinsATC
NM_000070.2:c.1537-9_1537-7delinsATC	NP_000061.1:n.1537-9_1537-7delinsATC
NM_024344.1:c.1537-9_1537-7delinsATC	NP_077320.1:n.1537-9_1537-7delinsATC
NM_173087.1:c.1393-9_1393-7delinsATC	NP_775110.1:n.1393-9_1393-7delinsATC
NM_173088.1:c.1-9_1-7delinsATC	NP_775111.1:n.1-9_1-7delinsATC
NM_000070.3:c.1537-9_1537-7delinsATC MANE Select	NP_000061.1:n.1537-9_1537-7delinsATC
NM_024344.2:c.1537-9_1537-7delinsATC	NP_077320.1:n.1537-9_1537-7delinsATC
NM_173087.2:c.1393-9_1393-7delinsATC	NP_775110.1:n.1393-9_1393-7delinsATC
NM_173088.2:c.1-9_1-7delinsATC	NP_775111.1:n.1-9_1-7delinsATC