Canonical Allele Identifier: CA2803913617
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42392593_42392601del , CM000677.2:g.42392593_42392601del GRCh38
NC_000015.9:g.42684791_42684799del , CM000677.1:g.42684791_42684799del GRCh37
NC_000015.8:g.40472083_40472091del NCBI36
NG_008660.1:g.49491_49499del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.802-46_802-38del ENSP00000183936.4:n.802-46_802-38del
ENST00000357568.8:c.946-46_946-38del ENSP00000350181.3:n.946-46_946-38del
ENST00000397163.8:c.946-46_946-38del MANE Select ENSP00000380349.3:n.946-46_946-38del
ENST00000466369.5:n.1455-46_1455-38del
ENST00000483208.5:n.1177-46_1177-38del
ENST00000495723.1:n.1177-46_1177-38del
ENST00000549793.5:n.1177-46_1177-38del
ENST00000638141.2:n.817-46_817-38del
ENST00000673705.1:c.71-4207_71-4199del ENSP00000501021.1:n.71-4207_71-4199del
ENST00000318023.11:c.802-46_802-38del ENSP00000326281.8:n.802-46_802-38del
ENST00000349748.7:c.802-46_802-38del ENSP00000183936.4:n.802-46_802-38del
ENST00000357568.7:c.946-46_946-38del ENSP00000350181.3:n.946-46_946-38del
ENST00000397163.7:c.946-46_946-38del ENSP00000380349.3:n.946-46_946-38del
NM_000070.2:c.946-46_946-38del NP_000061.1:n.946-46_946-38del
NM_024344.1:c.946-46_946-38del NP_077320.1:n.946-46_946-38del
NM_173087.1:c.802-46_802-38del NP_775110.1:n.802-46_802-38del
NM_000070.3:c.946-46_946-38del MANE Select NP_000061.1:n.946-46_946-38del
NM_024344.2:c.946-46_946-38del NP_077320.1:n.946-46_946-38del
NM_173087.2:c.802-46_802-38del NP_775110.1:n.802-46_802-38del