Canonical Allele Identifier: CA2628042354
Gene: CAPN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42410426_42410435del , CM000677.2:g.42410426_42410435del GRCh38
NC_000015.9:g.42702624_42702633del , CM000677.1:g.42702624_42702633del GRCh37
NC_000015.8:g.40489916_40489925del NCBI36
NG_008660.1:g.67324_67333del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337571.9:c.121-2_128del
ENST00000349748.8:c.1840-2_1847del
ENST00000357568.8:c.2098-2_2105del
ENST00000397163.8:c.2116-2_2123del
ENST00000397204.9:c.121-2_128del
ENST00000466222.7:n.381-2_388del
ENST00000466369.5:n.2607-2_2614del
ENST00000495723.1:n.2987-2_2994del
ENST00000549793.5:n.2329-2_2336del
ENST00000562199.2:c.124-6_127del
ENST00000569136.6:c.121-2_128del
ENST00000638141.2:n.1855-2_1862del
ENST00000673646.1:c.680-2_687del
ENST00000673684.1:n.96_105del
ENST00000673687.1:n.623_632del
ENST00000673692.1:c.121-2_128del
ENST00000673705.1:c.511-162_511-153del ENSP00000501021.1:n.511-162_511-153del
ENST00000673743.1:c.19-2_26del
ENST00000673750.1:c.121-2_128del
ENST00000673771.1:c.121-2_128del
ENST00000673774.1:n.1247_1256del
ENST00000673839.1:c.121-2_128del
ENST00000673851.1:c.121-2_128del
ENST00000673854.1:n.5538-2_5545del
ENST00000673886.1:c.121-2_128del
ENST00000673890.1:c.121-2_128del
ENST00000673893.1:c.319-2_326del
ENST00000673928.1:c.121-2_128del
ENST00000673936.1:c.121-2_128del
ENST00000673939.1:c.121-2_128del
ENST00000673950.1:n.390-2_397del
ENST00000673978.1:c.259-2_266del
ENST00000673987.1:c.121-2_128del
ENST00000674011.1:c.121-2_128del
ENST00000674018.1:c.121-2_128del
ENST00000674027.1:n.176-2_183del
ENST00000674041.1:c.121-2_128del
ENST00000674052.1:c.340-2_347del
ENST00000674093.1:c.121-2_128del
ENST00000674119.1:c.121-2_128del
ENST00000674135.1:c.298-2_305del
ENST00000674139.1:c.121-2_128del
ENST00000674146.1:c.121-2_128del
ENST00000674149.1:c.121-2_128del
ENST00000318023.11:c.1972-2_1979del
ENST00000337571.8:c.121-2_128del
ENST00000349748.7:c.1840-2_1847del
ENST00000356316.7:c.121-2_128del
ENST00000357568.7:c.2098-2_2105del
ENST00000397163.7:c.2116-2_2123del
ENST00000397200.8:c.580-2_587del
ENST00000397204.8:c.121-2_128del
ENST00000466222.6:n.1039-2_1046del
ENST00000561817.5:c.121-2_128del
ENST00000562199.1:n.124-6_127del
ENST00000564503.5:c.213-2_220del
ENST00000565274.5:c.346_355del ENSP00000457759.1:n.346_355del
ENST00000565559.5:c.298-2_305del
ENST00000569136.5:c.121-2_128del
ENST00000569827.5:c.448-2_455del
NM_000070.2:c.2116-2_2123del
NM_024344.1:c.2098-2_2105del
NM_173087.1:c.1840-2_1847del
NM_173088.1:c.580-2_587del
NM_173089.1:c.121-2_128del
NM_173090.1:c.121-2_128del
NM_000070.3:c.2116-2_2123del
NM_024344.2:c.2098-2_2105del
NM_173087.2:c.1840-2_1847del
NM_173088.2:c.580-2_587del
NM_173089.2:c.121-2_128del
NM_173090.2:c.121-2_128del