Canonical Allele Identifier: CA2695218807

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409948_42409960del , CM000677.2:g.42409948_42409960del	GRCh38
NC_000015.9:g.42702146_42702158del , CM000677.1:g.42702146_42702158del	GRCh37
NC_000015.8:g.40489438_40489450del	NCBI36
NG_008660.1:g.66846_66858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.73_85del	ENSP00000336840.4:p.His25TrpfsTer7
ENST00000349748.8:c.1792_1804del	ENSP00000183936.4:p.His598TrpfsTer7
ENST00000357568.8:c.2050_2062del	ENSP00000350181.3:p.His684TrpfsTer7
ENST00000397163.8:c.2068_2080del MANE Select	ENSP00000380349.3:p.His690TrpfsTer7
ENST00000397204.9:c.73_85del	ENSP00000380387.4:p.His25TrpfsTer7
ENST00000466222.7:n.333_345del
ENST00000466369.5:n.2559_2571del
ENST00000495723.1:n.2939_2951del
ENST00000549793.5:n.2281_2293del
ENST00000562199.2:c.76_88del	ENSP00000501034.1:p.His26TrpfsTer7
ENST00000569136.6:c.73_85del	ENSP00000455254.1:p.His25TrpfsTer7
ENST00000638141.2:n.1807_1819del
ENST00000673646.1:c.632_644del	ENSP00000501007.1:n.632_644del
ENST00000673687.1:n.145_157del
ENST00000673692.1:c.73_85del	ENSP00000501138.1:p.His25TrpfsTer7
ENST00000673705.1:c.463_475del	ENSP00000501021.1:n.463_475del
ENST00000673743.1:c.-30_-18del	ENSP00000500989.1:n.-30_-18del
ENST00000673750.1:c.73_85del	ENSP00000501173.1:p.His25TrpfsTer7
ENST00000673771.1:c.73_85del	ENSP00000501023.1:p.His25TrpfsTer7
ENST00000673774.1:n.769_781del
ENST00000673839.1:c.73_85del	ENSP00000501188.1:p.His25TrpfsTer7
ENST00000673851.1:c.73_85del	ENSP00000501142.1:p.His25TrpfsTer7
ENST00000673854.1:n.5490_5502del
ENST00000673886.1:c.73_85del	ENSP00000501155.1:p.His25TrpfsTer7
ENST00000673890.1:c.73_85del	ENSP00000501293.1:p.His25TrpfsTer7
ENST00000673928.1:c.73_85del	ENSP00000501099.1:p.His25TrpfsTer7
ENST00000673936.1:c.73_85del	ENSP00000501189.1:p.His25TrpfsTer7
ENST00000673939.1:c.73_85del	ENSP00000501129.1:p.His25TrpfsTer7
ENST00000673950.1:n.342_354del
ENST00000673978.1:c.211_223del	ENSP00000500976.1:p.His71TrpfsTer7
ENST00000673987.1:c.73_85del	ENSP00000501231.1:p.His25TrpfsTer7
ENST00000674011.1:c.73_85del	ENSP00000501171.1:p.His25TrpfsTer7
ENST00000674018.1:c.73_85del	ENSP00000501271.1:p.His25TrpfsTer7
ENST00000674027.1:n.128_140del
ENST00000674041.1:c.73_85del	ENSP00000500956.1:p.His25TrpfsTer7
ENST00000674052.1:c.292_304del	ENSP00000501057.1:p.His98TrpfsTer7
ENST00000674093.1:c.73_85del	ENSP00000501303.1:p.His25TrpfsTer7
ENST00000674119.1:c.73_85del	ENSP00000501217.1:p.His25TrpfsTer7
ENST00000674130.1:n.286_298del
ENST00000674135.1:c.250_262del	ENSP00000501178.1:p.His84TrpfsTer7
ENST00000674139.1:c.73_85del	ENSP00000501054.1:p.His25TrpfsTer7
ENST00000674146.1:c.73_85del	ENSP00000501175.1:p.His25TrpfsTer7
ENST00000674149.1:c.73_85del	ENSP00000501112.1:p.His25TrpfsTer7
ENST00000318023.11:c.1924_1936del	ENSP00000326281.8:p.His642TrpfsTer7
ENST00000337571.8:c.73_85del	ENSP00000336840.4:p.His25TrpfsTer7
ENST00000349748.7:c.1792_1804del	ENSP00000183936.4:p.His598TrpfsTer7
ENST00000356316.7:c.73_85del	ENSP00000348667.4:p.His25TrpfsTer7
ENST00000357568.7:c.2050_2062del	ENSP00000350181.3:p.His684TrpfsTer7
ENST00000397163.7:c.2068_2080del	ENSP00000380349.3:p.His690TrpfsTer7
ENST00000397200.8:c.532_544del	ENSP00000380384.4:p.His178TrpfsTer7
ENST00000397204.8:c.73_85del	ENSP00000380387.4:p.His25TrpfsTer7
ENST00000466222.6:n.991_1003del
ENST00000561817.5:c.73_85del	ENSP00000456575.1:p.His25TrpfsTer7
ENST00000562199.1:n.76_88del
ENST00000564503.5:c.165_177del
ENST00000565274.5:c.280_292del	ENSP00000457759.1:p.His94TrpfsTer7
ENST00000565559.5:c.250_262del	ENSP00000457878.1:p.His84TrpfsTer7
ENST00000567071.5:c.548_560del
ENST00000569136.5:c.73_85del	ENSP00000455254.1:p.His25TrpfsTer7
ENST00000569827.5:c.400_412del	ENSP00000454379.1:p.His134TrpfsTer7
NM_000070.2:c.2068_2080del	NP_000061.1:p.His690TrpfsTer7
NM_024344.1:c.2050_2062del	NP_077320.1:p.His684TrpfsTer7
NM_173087.1:c.1792_1804del	NP_775110.1:p.His598TrpfsTer7
NM_173088.1:c.532_544del	NP_775111.1:p.His178TrpfsTer7
NM_173089.1:c.73_85del	NP_775112.1:p.His25TrpfsTer7
NM_173090.1:c.73_85del	NP_775113.1:p.His25TrpfsTer7
NM_000070.3:c.2068_2080del MANE Select	NP_000061.1:p.His690TrpfsTer7
NM_024344.2:c.2050_2062del	NP_077320.1:p.His684TrpfsTer7
NM_173087.2:c.1792_1804del	NP_775110.1:p.His598TrpfsTer7
NM_173088.2:c.532_544del	NP_775111.1:p.His178TrpfsTer7
NM_173089.2:c.73_85del	NP_775112.1:p.His25TrpfsTer7
NM_173090.2:c.73_85del	NP_775113.1:p.His25TrpfsTer7