Canonical Allele Identifier: CA2172720716

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410498_42410501delinsTGGG , CM000677.2:g.42410498_42410501delinsTGGG	GRCh38
NC_000015.9:g.42702696_42702699delinsTGGG , CM000677.1:g.42702696_42702699delinsTGGG	GRCh37
NC_000015.8:g.40489988_40489991delinsTGGG	NCBI36
NG_008660.1:g.67396_67399delinsTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.189+2_189+5delinsTGGG	ENSP00000336840.4:n.189+2_189+5delinsTGGG
ENST00000349748.8:c.1908+2_1908+5delinsTGGG	ENSP00000183936.4:n.1908+2_1908+5delinsTGGG
ENST00000357568.8:c.2166+2_2166+5delinsTGGG	ENSP00000350181.3:n.2166+2_2166+5delinsTGGG
ENST00000397163.8:c.2184+2_2184+5delinsTGGG MANE Select	ENSP00000380349.3:n.2184+2_2184+5delinsTGGG
ENST00000397204.9:c.189+2_189+5delinsTGGG	ENSP00000380387.4:n.189+2_189+5delinsTGGG
ENST00000466222.7:n.451_454delinsTGGG
ENST00000466369.5:n.2675+2_2675+5delinsTGGG
ENST00000495723.1:n.3055+2_3055+5delinsTGGG
ENST00000549793.5:n.2397+2_2397+5delinsTGGG
ENST00000562199.2:c.188+2_188+5delinsTGGG	ENSP00000501034.1:n.188+2_188+5delinsTGGG
ENST00000568153.2:c.50+2_50+5delinsTGGG
ENST00000569136.6:c.189+2_189+5delinsTGGG	ENSP00000455254.1:n.189+2_189+5delinsTGGG
ENST00000638141.2:n.1923+2_1923+5delinsTGGG
ENST00000673646.1:c.748+2_748+5delinsTGGG	ENSP00000501007.1:n.748+2_748+5delinsTGGG
ENST00000673684.1:n.166+2_166+5delinsTGGG
ENST00000673687.1:n.695_698delinsTGGG
ENST00000673692.1:c.189+2_189+5delinsTGGG	ENSP00000501138.1:n.189+2_189+5delinsTGGG
ENST00000673705.1:c.511-90_511-87delinsTGGG	ENSP00000501021.1:n.511-90_511-87delinsTGGG
ENST00000673743.1:c.87+2_87+5delinsTGGG	ENSP00000500989.1:n.87+2_87+5delinsTGGG
ENST00000673750.1:c.189+2_189+5delinsTGGG	ENSP00000501173.1:n.189+2_189+5delinsTGGG
ENST00000673771.1:c.189+2_189+5delinsTGGG	ENSP00000501023.1:n.189+2_189+5delinsTGGG
ENST00000673774.1:n.1317+2_1317+5delinsTGGG
ENST00000673839.1:c.189+2_189+5delinsTGGG	ENSP00000501188.1:n.189+2_189+5delinsTGGG
ENST00000673851.1:c.189+2_189+5delinsTGGG	ENSP00000501142.1:n.189+2_189+5delinsTGGG
ENST00000673854.1:n.5606+2_5606+5delinsTGGG
ENST00000673886.1:c.189+2_189+5delinsTGGG	ENSP00000501155.1:n.189+2_189+5delinsTGGG
ENST00000673890.1:c.189+2_189+5delinsTGGG	ENSP00000501293.1:n.189+2_189+5delinsTGGG
ENST00000673893.1:c.387+2_387+5delinsTGGG	ENSP00000500987.1:n.387+2_387+5delinsTGGG
ENST00000673928.1:c.189+2_189+5delinsTGGG	ENSP00000501099.1:n.189+2_189+5delinsTGGG
ENST00000673936.1:c.189+2_189+5delinsTGGG	ENSP00000501189.1:n.189+2_189+5delinsTGGG
ENST00000673939.1:c.189+2_189+5delinsTGGG	ENSP00000501129.1:n.189+2_189+5delinsTGGG
ENST00000673950.1:n.458+2_458+5delinsTGGG
ENST00000673978.1:c.327+2_327+5delinsTGGG	ENSP00000500976.1:n.327+2_327+5delinsTGGG
ENST00000673987.1:c.189+2_189+5delinsTGGG	ENSP00000501231.1:n.189+2_189+5delinsTGGG
ENST00000674011.1:c.189+2_189+5delinsTGGG	ENSP00000501171.1:n.189+2_189+5delinsTGGG
ENST00000674018.1:c.189+2_189+5delinsTGGG	ENSP00000501271.1:n.189+2_189+5delinsTGGG
ENST00000674027.1:n.246_249delinsTGGG
ENST00000674041.1:c.189+2_189+5delinsTGGG	ENSP00000500956.1:n.189+2_189+5delinsTGGG
ENST00000674052.1:c.408+2_408+5delinsTGGG	ENSP00000501057.1:n.408+2_408+5delinsTGGG
ENST00000674093.1:c.189+2_189+5delinsTGGG	ENSP00000501303.1:n.189+2_189+5delinsTGGG
ENST00000674119.1:c.189+2_189+5delinsTGGG	ENSP00000501217.1:n.189+2_189+5delinsTGGG
ENST00000674135.1:c.366+2_366+5delinsTGGG	ENSP00000501178.1:n.366+2_366+5delinsTGGG
ENST00000674139.1:c.189+2_189+5delinsTGGG	ENSP00000501054.1:n.189+2_189+5delinsTGGG
ENST00000674146.1:c.189+2_189+5delinsTGGG	ENSP00000501175.1:n.189+2_189+5delinsTGGG
ENST00000674149.1:c.189+2_189+5delinsTGGG	ENSP00000501112.1:n.189+2_189+5delinsTGGG
ENST00000318023.11:c.2040+2_2040+5delinsTGGG	ENSP00000326281.8:n.2040+2_2040+5delinsTGGG
ENST00000337571.8:c.189+2_189+5delinsTGGG	ENSP00000336840.4:n.189+2_189+5delinsTGGG
ENST00000349748.7:c.1908+2_1908+5delinsTGGG	ENSP00000183936.4:n.1908+2_1908+5delinsTGGG
ENST00000356316.7:c.189+2_189+5delinsTGGG	ENSP00000348667.4:n.189+2_189+5delinsTGGG
ENST00000357568.7:c.2166+2_2166+5delinsTGGG	ENSP00000350181.3:n.2166+2_2166+5delinsTGGG
ENST00000397163.7:c.2184+2_2184+5delinsTGGG	ENSP00000380349.3:n.2184+2_2184+5delinsTGGG
ENST00000397200.8:c.648+2_648+5delinsTGGG	ENSP00000380384.4:n.648+2_648+5delinsTGGG
ENST00000397204.8:c.189+2_189+5delinsTGGG	ENSP00000380387.4:n.189+2_189+5delinsTGGG
ENST00000466222.6:n.1107+2_1107+5delinsTGGG
ENST00000561817.5:c.189+2_189+5delinsTGGG	ENSP00000456575.1:n.189+2_189+5delinsTGGG
ENST00000562199.1:n.188+2_188+5delinsTGGG
ENST00000564503.5:c.281+2_281+5delinsTGGG
ENST00000565274.5:c.416+2_416+5delinsTGGG	ENSP00000457759.1:n.416+2_416+5delinsTGGG
ENST00000565559.5:c.366+2_366+5delinsTGGG	ENSP00000457878.1:n.366+2_366+5delinsTGGG
ENST00000569136.5:c.189+2_189+5delinsTGGG	ENSP00000455254.1:n.189+2_189+5delinsTGGG
ENST00000569827.5:c.516+2_516+5delinsTGGG	ENSP00000454379.1:n.516+2_516+5delinsTGGG
NM_000070.2:c.2184+2_2184+5delinsTGGG	NP_000061.1:n.2184+2_2184+5delinsTGGG
NM_024344.1:c.2166+2_2166+5delinsTGGG	NP_077320.1:n.2166+2_2166+5delinsTGGG
NM_173087.1:c.1908+2_1908+5delinsTGGG	NP_775110.1:n.1908+2_1908+5delinsTGGG
NM_173088.1:c.648+2_648+5delinsTGGG	NP_775111.1:n.648+2_648+5delinsTGGG
NM_173089.1:c.189+2_189+5delinsTGGG	NP_775112.1:n.189+2_189+5delinsTGGG
NM_173090.1:c.189+2_189+5delinsTGGG	NP_775113.1:n.189+2_189+5delinsTGGG
NM_000070.3:c.2184+2_2184+5delinsTGGG MANE Select	NP_000061.1:n.2184+2_2184+5delinsTGGG
NM_024344.2:c.2166+2_2166+5delinsTGGG	NP_077320.1:n.2166+2_2166+5delinsTGGG
NM_173087.2:c.1908+2_1908+5delinsTGGG	NP_775110.1:n.1908+2_1908+5delinsTGGG
NM_173088.2:c.648+2_648+5delinsTGGG	NP_775111.1:n.648+2_648+5delinsTGGG
NM_173089.2:c.189+2_189+5delinsTGGG	NP_775112.1:n.189+2_189+5delinsTGGG
NM_173090.2:c.189+2_189+5delinsTGGG	NP_775113.1:n.189+2_189+5delinsTGGG