Canonical Allele Identifier: CA2628042096

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42409904-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409908_42409910del , CM000677.2:g.42409908_42409910del	GRCh38
NC_000015.9:g.42702106_42702108del , CM000677.1:g.42702106_42702108del	GRCh37
NC_000015.8:g.40489398_40489400del	NCBI36
NG_008660.1:g.66806_66808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.56-23_56-21del	ENSP00000336840.4:n.56-23_56-21del
ENST00000349748.8:c.1775-23_1775-21del	ENSP00000183936.4:n.1775-23_1775-21del
ENST00000357568.8:c.2033-23_2033-21del	ENSP00000350181.3:n.2033-23_2033-21del
ENST00000397163.8:c.2051-23_2051-21del MANE Select	ENSP00000380349.3:n.2051-23_2051-21del
ENST00000397204.9:c.56-23_56-21del	ENSP00000380387.4:n.56-23_56-21del
ENST00000466222.7:n.316-23_316-21del
ENST00000466369.5:n.2542-23_2542-21del
ENST00000495723.1:n.2922-23_2922-21del
ENST00000549793.5:n.2264-23_2264-21del
ENST00000562199.2:c.59-23_59-21del	ENSP00000501034.1:n.59-23_59-21del
ENST00000569136.6:c.56-23_56-21del	ENSP00000455254.1:n.56-23_56-21del
ENST00000638141.2:n.1790-23_1790-21del
ENST00000673646.1:c.615-23_615-21del	ENSP00000501007.1:n.615-23_615-21del
ENST00000673687.1:n.128-23_128-21del
ENST00000673692.1:c.56-23_56-21del	ENSP00000501138.1:n.56-23_56-21del
ENST00000673705.1:c.446-23_446-21del	ENSP00000501021.1:n.446-23_446-21del
ENST00000673743.1:c.-42-28_-42-26del	ENSP00000500989.1:n.-42-28_-42-26del
ENST00000673750.1:c.56-23_56-21del	ENSP00000501173.1:n.56-23_56-21del
ENST00000673771.1:c.56-23_56-21del	ENSP00000501023.1:n.56-23_56-21del
ENST00000673774.1:n.752-23_752-21del
ENST00000673839.1:c.56-23_56-21del	ENSP00000501188.1:n.56-23_56-21del
ENST00000673851.1:c.56-23_56-21del	ENSP00000501142.1:n.56-23_56-21del
ENST00000673854.1:n.5473-23_5473-21del
ENST00000673886.1:c.56-23_56-21del	ENSP00000501155.1:n.56-23_56-21del
ENST00000673890.1:c.56-23_56-21del	ENSP00000501293.1:n.56-23_56-21del
ENST00000673928.1:c.56-23_56-21del	ENSP00000501099.1:n.56-23_56-21del
ENST00000673936.1:c.56-23_56-21del	ENSP00000501189.1:n.56-23_56-21del
ENST00000673939.1:c.56-23_56-21del	ENSP00000501129.1:n.56-23_56-21del
ENST00000673950.1:n.325-23_325-21del
ENST00000673978.1:c.194-23_194-21del	ENSP00000500976.1:n.194-23_194-21del
ENST00000673987.1:c.56-23_56-21del	ENSP00000501231.1:n.56-23_56-21del
ENST00000674011.1:c.56-23_56-21del	ENSP00000501171.1:n.56-23_56-21del
ENST00000674018.1:c.56-23_56-21del	ENSP00000501271.1:n.56-23_56-21del
ENST00000674027.1:n.111-23_111-21del
ENST00000674041.1:c.56-23_56-21del	ENSP00000500956.1:n.56-23_56-21del
ENST00000674052.1:c.275-23_275-21del	ENSP00000501057.1:n.275-23_275-21del
ENST00000674093.1:c.56-23_56-21del	ENSP00000501303.1:n.56-23_56-21del
ENST00000674119.1:c.56-23_56-21del	ENSP00000501217.1:n.56-23_56-21del
ENST00000674130.1:n.269-23_269-21del
ENST00000674135.1:c.233-23_233-21del	ENSP00000501178.1:n.233-23_233-21del
ENST00000674139.1:c.56-23_56-21del	ENSP00000501054.1:n.56-23_56-21del
ENST00000674146.1:c.56-23_56-21del	ENSP00000501175.1:n.56-23_56-21del
ENST00000674149.1:c.56-23_56-21del	ENSP00000501112.1:n.56-23_56-21del
ENST00000318023.11:c.1907-23_1907-21del	ENSP00000326281.8:n.1907-23_1907-21del
ENST00000337571.8:c.56-23_56-21del	ENSP00000336840.4:n.56-23_56-21del
ENST00000349748.7:c.1775-23_1775-21del	ENSP00000183936.4:n.1775-23_1775-21del
ENST00000356316.7:c.56-23_56-21del	ENSP00000348667.4:n.56-23_56-21del
ENST00000357568.7:c.2033-23_2033-21del	ENSP00000350181.3:n.2033-23_2033-21del
ENST00000397163.7:c.2051-23_2051-21del	ENSP00000380349.3:n.2051-23_2051-21del
ENST00000397200.8:c.515-23_515-21del	ENSP00000380384.4:n.515-23_515-21del
ENST00000397204.8:c.56-23_56-21del	ENSP00000380387.4:n.56-23_56-21del
ENST00000466222.6:n.974-23_974-21del
ENST00000561817.5:c.56-23_56-21del	ENSP00000456575.1:n.56-23_56-21del
ENST00000562199.1:n.59-23_59-21del
ENST00000564503.5:c.148-23_148-21del
ENST00000565274.5:c.263-23_263-21del	ENSP00000457759.1:n.263-23_263-21del
ENST00000565559.5:c.233-23_233-21del	ENSP00000457878.1:n.233-23_233-21del
ENST00000567071.5:c.531-23_531-21del
ENST00000569136.5:c.56-23_56-21del	ENSP00000455254.1:n.56-23_56-21del
ENST00000569827.5:c.383-23_383-21del	ENSP00000454379.1:n.383-23_383-21del
NM_000070.2:c.2051-23_2051-21del	NP_000061.1:n.2051-23_2051-21del
NM_024344.1:c.2033-23_2033-21del	NP_077320.1:n.2033-23_2033-21del
NM_173087.1:c.1775-23_1775-21del	NP_775110.1:n.1775-23_1775-21del
NM_173088.1:c.515-23_515-21del	NP_775111.1:n.515-23_515-21del
NM_173089.1:c.56-23_56-21del	NP_775112.1:n.56-23_56-21del
NM_173090.1:c.56-23_56-21del	NP_775113.1:n.56-23_56-21del
NM_000070.3:c.2051-23_2051-21del MANE Select	NP_000061.1:n.2051-23_2051-21del
NM_024344.2:c.2033-23_2033-21del	NP_077320.1:n.2033-23_2033-21del
NM_173087.2:c.1775-23_1775-21del	NP_775110.1:n.1775-23_1775-21del
NM_173088.2:c.515-23_515-21del	NP_775111.1:n.515-23_515-21del
NM_173089.2:c.56-23_56-21del	NP_775112.1:n.56-23_56-21del
NM_173090.2:c.56-23_56-21del	NP_775113.1:n.56-23_56-21del