Canonical Allele Identifier: CA2803913615
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42392586_42392587del , CM000677.2:g.42392586_42392587del GRCh38
NC_000015.9:g.42684784_42684785del , CM000677.1:g.42684784_42684785del GRCh37
NC_000015.8:g.40472076_40472077del NCBI36
NG_008660.1:g.49484_49485del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.802-53_802-52del ENSP00000183936.4:n.802-53_802-52del
ENST00000357568.8:c.946-53_946-52del ENSP00000350181.3:n.946-53_946-52del
ENST00000397163.8:c.946-53_946-52del MANE Select ENSP00000380349.3:n.946-53_946-52del
ENST00000466369.5:n.1455-53_1455-52del
ENST00000483208.5:n.1177-53_1177-52del
ENST00000495723.1:n.1177-53_1177-52del
ENST00000549793.5:n.1177-53_1177-52del
ENST00000638141.2:n.817-53_817-52del
ENST00000673705.1:c.71-4214_71-4213del ENSP00000501021.1:n.71-4214_71-4213del
ENST00000318023.11:c.802-53_802-52del ENSP00000326281.8:n.802-53_802-52del
ENST00000349748.7:c.802-53_802-52del ENSP00000183936.4:n.802-53_802-52del
ENST00000357568.7:c.946-53_946-52del ENSP00000350181.3:n.946-53_946-52del
ENST00000397163.7:c.946-53_946-52del ENSP00000380349.3:n.946-53_946-52del
NM_000070.2:c.946-53_946-52del NP_000061.1:n.946-53_946-52del
NM_024344.1:c.946-53_946-52del NP_077320.1:n.946-53_946-52del
NM_173087.1:c.802-53_802-52del NP_775110.1:n.802-53_802-52del
NM_000070.3:c.946-53_946-52del MANE Select NP_000061.1:n.946-53_946-52del
NM_024344.2:c.946-53_946-52del NP_077320.1:n.946-53_946-52del
NM_173087.2:c.802-53_802-52del NP_775110.1:n.802-53_802-52del