Canonical Allele Identifier: CA2695218812
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42410576_42410597del , CM000677.2:g.42410576_42410597del GRCh38
NC_000015.9:g.42702774_42702795del , CM000677.1:g.42702774_42702795del GRCh37
NC_000015.8:g.40490066_40490087del NCBI36
NG_008660.1:g.67474_67495del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337571.9:c.190-12_199del
ENST00000349748.8:c.1909-12_1918del
ENST00000357568.8:c.2167-12_2176del
ENST00000397163.8:c.2185-12_2194del
ENST00000397204.9:c.190-12_199del
ENST00000466222.7:n.529_550del
ENST00000466369.5:n.2676-12_2685del
ENST00000495723.1:n.3056-12_3065del
ENST00000549793.5:n.2398-12_2407del
ENST00000562199.2:c.189-12_198del
ENST00000568153.2:c.51-12_60del
ENST00000569136.6:c.190-12_199del
ENST00000638141.2:n.1924-12_1933del
ENST00000673646.1:c.749-12_758del
ENST00000673684.1:n.167-12_176del
ENST00000673687.1:n.773_794del
ENST00000673692.1:c.190-12_199del
ENST00000673705.1:c.511-12_520del
ENST00000673743.1:c.88-12_97del
ENST00000673750.1:c.190-12_199del
ENST00000673771.1:c.190-12_199del
ENST00000673774.1:n.1318-12_1327del
ENST00000673839.1:c.190-12_199del
ENST00000673851.1:c.190-12_199del
ENST00000673854.1:n.5607-12_5616del
ENST00000673886.1:c.190-12_199del
ENST00000673890.1:c.190-12_199del
ENST00000673893.1:c.388-12_397del
ENST00000673928.1:c.190-12_199del
ENST00000673936.1:c.190-12_199del
ENST00000673939.1:c.190-12_199del
ENST00000673950.1:n.459-12_468del
ENST00000673978.1:c.328-12_337del
ENST00000673987.1:c.190-12_199del
ENST00000674011.1:c.190-12_199del
ENST00000674018.1:c.190-12_199del
ENST00000674027.1:n.324_345del
ENST00000674041.1:c.190-12_199del
ENST00000674052.1:c.409-12_418del
ENST00000674093.1:c.190-12_199del
ENST00000674119.1:c.190-12_199del
ENST00000674135.1:c.367-12_376del
ENST00000674139.1:c.190-12_199del
ENST00000674146.1:c.190-12_199del
ENST00000674149.1:c.190-12_199del
ENST00000318023.11:c.2041-12_2050del
ENST00000337571.8:c.190-12_199del
ENST00000349748.7:c.1909-12_1918del
ENST00000356316.7:c.190-12_199del
ENST00000357568.7:c.2167-12_2176del
ENST00000397163.7:c.2185-12_2194del
ENST00000397200.8:c.649-12_658del
ENST00000397204.8:c.190-12_199del
ENST00000466222.6:n.1108-12_1117del
ENST00000561817.5:c.190-12_199del
ENST00000562199.1:n.189-12_198del
ENST00000564503.5:c.282-66_282-45del
ENST00000565274.5:c.417-66_417-45del ENSP00000457759.1:n.417-66_417-45del
ENST00000565559.5:c.367-12_376del
ENST00000569136.5:c.190-12_199del
ENST00000569827.5:c.517-12_526del
NM_000070.2:c.2185-12_2194del
NM_024344.1:c.2167-12_2176del
NM_173087.1:c.1909-12_1918del
NM_173088.1:c.649-12_658del
NM_173089.1:c.190-12_199del
NM_173090.1:c.190-12_199del
NM_000070.3:c.2185-12_2194del
NM_024344.2:c.2167-12_2176del
NM_173087.2:c.1909-12_1918del
NM_173088.2:c.649-12_658del
NM_173089.2:c.190-12_199del
NM_173090.2:c.190-12_199del