Canonical Allele Identifier: CA269853126
Gene: CAPN3 HGNC NCBI

Linked Data

dbSNP Id: rs1009051495
gnomAD v3: 15-42410236-CAA-C
gnomAD v4: 15-42410236-CAA-C
MyVariant Identifiers: chr15:g.42702435_42702436del (hg19) chr15:g.42410237_42410238del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42410239_42410240del , CM000677.2:g.42410239_42410240del GRCh38
NC_000015.9:g.42702437_42702438del , CM000677.1:g.42702437_42702438del GRCh37
NC_000015.8:g.40489729_40489730del NCBI36
NG_008660.1:g.67137_67138del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337571.9:c.121-189_121-188del ENSP00000336840.4:n.121-189_121-188del
ENST00000349748.8:c.1840-189_1840-188del ENSP00000183936.4:n.1840-189_1840-188del
ENST00000357568.8:c.2098-189_2098-188del ENSP00000350181.3:n.2098-189_2098-188del
ENST00000397163.8:c.2116-189_2116-188del MANE Select ENSP00000380349.3:n.2116-189_2116-188del
ENST00000397204.9:c.121-189_121-188del ENSP00000380387.4:n.121-189_121-188del
ENST00000466222.7:n.381-189_381-188del
ENST00000466369.5:n.2607-189_2607-188del
ENST00000495723.1:n.2987-189_2987-188del
ENST00000549793.5:n.2329-189_2329-188del
ENST00000562199.2:c.124-193_124-192del ENSP00000501034.1:n.124-193_124-192del
ENST00000569136.6:c.121-189_121-188del ENSP00000455254.1:n.121-189_121-188del
ENST00000638141.2:n.1855-189_1855-188del
ENST00000673646.1:c.680-189_680-188del ENSP00000501007.1:n.680-189_680-188del
ENST00000673687.1:n.436_437del
ENST00000673692.1:c.121-189_121-188del ENSP00000501138.1:n.121-189_121-188del
ENST00000673705.1:c.510+244_510+245del ENSP00000501021.1:n.510+244_510+245del
ENST00000673743.1:c.19-189_19-188del ENSP00000500989.1:n.19-189_19-188del
ENST00000673750.1:c.121-189_121-188del ENSP00000501173.1:n.121-189_121-188del
ENST00000673771.1:c.121-189_121-188del ENSP00000501023.1:n.121-189_121-188del
ENST00000673774.1:n.1060_1061del
ENST00000673839.1:c.121-189_121-188del ENSP00000501188.1:n.121-189_121-188del
ENST00000673851.1:c.121-189_121-188del ENSP00000501142.1:n.121-189_121-188del
ENST00000673854.1:n.5538-189_5538-188del
ENST00000673886.1:c.121-189_121-188del ENSP00000501155.1:n.121-189_121-188del
ENST00000673890.1:c.121-189_121-188del ENSP00000501293.1:n.121-189_121-188del
ENST00000673893.1:c.283_284del ENSP00000500987.1:n.283_284del
ENST00000673928.1:c.121-189_121-188del ENSP00000501099.1:n.121-189_121-188del
ENST00000673936.1:c.121-189_121-188del ENSP00000501189.1:n.121-189_121-188del
ENST00000673939.1:c.121-189_121-188del ENSP00000501129.1:n.121-189_121-188del
ENST00000673950.1:n.390-189_390-188del
ENST00000673978.1:c.259-189_259-188del ENSP00000500976.1:n.259-189_259-188del
ENST00000673987.1:c.121-189_121-188del ENSP00000501231.1:n.121-189_121-188del
ENST00000674011.1:c.121-189_121-188del ENSP00000501171.1:n.121-189_121-188del
ENST00000674018.1:c.121-189_121-188del ENSP00000501271.1:n.121-189_121-188del
ENST00000674027.1:n.176-189_176-188del
ENST00000674041.1:c.121-189_121-188del ENSP00000500956.1:n.121-189_121-188del
ENST00000674052.1:c.340-189_340-188del ENSP00000501057.1:n.340-189_340-188del
ENST00000674093.1:c.121-189_121-188del ENSP00000501303.1:n.121-189_121-188del
ENST00000674119.1:c.121-189_121-188del ENSP00000501217.1:n.121-189_121-188del
ENST00000674130.1:n.577_578del
ENST00000674135.1:c.298-189_298-188del ENSP00000501178.1:n.298-189_298-188del
ENST00000674139.1:c.121-189_121-188del ENSP00000501054.1:n.121-189_121-188del
ENST00000674146.1:c.121-189_121-188del ENSP00000501175.1:n.121-189_121-188del
ENST00000674149.1:c.121-189_121-188del ENSP00000501112.1:n.121-189_121-188del
ENST00000318023.11:c.1972-189_1972-188del ENSP00000326281.8:n.1972-189_1972-188del
ENST00000337571.8:c.121-189_121-188del ENSP00000336840.4:n.121-189_121-188del
ENST00000349748.7:c.1840-189_1840-188del ENSP00000183936.4:n.1840-189_1840-188del
ENST00000356316.7:c.121-189_121-188del ENSP00000348667.4:n.121-189_121-188del
ENST00000357568.7:c.2098-189_2098-188del ENSP00000350181.3:n.2098-189_2098-188del
ENST00000397163.7:c.2116-189_2116-188del ENSP00000380349.3:n.2116-189_2116-188del
ENST00000397200.8:c.580-189_580-188del ENSP00000380384.4:n.580-189_580-188del
ENST00000397204.8:c.121-189_121-188del ENSP00000380387.4:n.121-189_121-188del
ENST00000466222.6:n.1039-189_1039-188del
ENST00000561817.5:c.121-189_121-188del ENSP00000456575.1:n.121-189_121-188del
ENST00000562199.1:n.124-193_124-192del
ENST00000564503.5:c.213-189_213-188del
ENST00000565274.5:c.328-169_328-168del ENSP00000457759.1:n.328-169_328-168del
ENST00000565559.5:c.298-189_298-188del ENSP00000457878.1:n.298-189_298-188del
ENST00000569136.5:c.121-189_121-188del ENSP00000455254.1:n.121-189_121-188del
ENST00000569827.5:c.448-189_448-188del ENSP00000454379.1:n.448-189_448-188del
NM_000070.2:c.2116-189_2116-188del NP_000061.1:n.2116-189_2116-188del
NM_024344.1:c.2098-189_2098-188del NP_077320.1:n.2098-189_2098-188del
NM_173087.1:c.1840-189_1840-188del NP_775110.1:n.1840-189_1840-188del
NM_173088.1:c.580-189_580-188del NP_775111.1:n.580-189_580-188del
NM_173089.1:c.121-189_121-188del NP_775112.1:n.121-189_121-188del
NM_173090.1:c.121-189_121-188del NP_775113.1:n.121-189_121-188del
NM_000070.3:c.2116-189_2116-188del MANE Select NP_000061.1:n.2116-189_2116-188del
NM_024344.2:c.2098-189_2098-188del NP_077320.1:n.2098-189_2098-188del
NM_173087.2:c.1840-189_1840-188del NP_775110.1:n.1840-189_1840-188del
NM_173088.2:c.580-189_580-188del NP_775111.1:n.580-189_580-188del
NM_173089.2:c.121-189_121-188del NP_775112.1:n.121-189_121-188del
NM_173090.2:c.121-189_121-188del NP_775113.1:n.121-189_121-188del
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Search 100 bp 3'