Canonical Allele Identifier: CA2628041805

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42409883-G-GAGTCCCGTGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409891_42409892insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT , CM000677.2:g.42409891_42409892insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	GRCh38
NC_000015.9:g.42702089_42702090insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT , CM000677.1:g.42702089_42702090insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	GRCh37
NC_000015.8:g.40489381_40489382insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NCBI36
NG_008660.1:g.66789_66790insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000336840.4:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000349748.8:c.1775-40_1775-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000183936.4:n.1775-40_1775-39insGGTGTGGGGGGGGGGGGGGGGGG...
ENST00000357568.8:c.2033-40_2033-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000350181.3:n.2033-40_2033-39insGGTGTGGGGGGGGGGGGGGGGGG...
ENST00000397163.8:c.2051-40_2051-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT MANE Select	ENSP00000380349.3:n.2051-40_2051-39insGGTGTGGGGGGGGGGGGGGGGGG...
ENST00000397204.9:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000380387.4:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000466222.7:n.316-40_316-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000466369.5:n.2542-40_2542-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000495723.1:n.2922-40_2922-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000549793.5:n.2264-40_2264-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000562199.2:c.59-40_59-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501034.1:n.59-40_59-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000569136.6:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000455254.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000638141.2:n.1790-40_1790-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000673646.1:c.615-40_615-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501007.1:n.615-40_615-39insGGTGTGGGGGGGGGGGGGGGGGGGC...
ENST00000673687.1:n.128-40_128-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000673692.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501138.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000673705.1:c.446-40_446-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501021.1:n.446-40_446-39insGGTGTGGGGGGGGGGGGGGGGGGGC...
ENST00000673743.1:c.-42-45_-42-44insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000500989.1:n.-42-45_-42-44insGGTGTGGGGGGGGGGGGGGGGGGGC...
ENST00000673750.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501173.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000673771.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501023.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000673774.1:n.752-40_752-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000673839.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501188.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000673851.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501142.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000673854.1:n.5473-40_5473-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000673886.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501155.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000673890.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501293.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000673928.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501099.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000673936.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501189.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000673939.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501129.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000673950.1:n.325-40_325-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000673978.1:c.194-40_194-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000500976.1:n.194-40_194-39insGGTGTGGGGGGGGGGGGGGGGGGGC...
ENST00000673987.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501231.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000674011.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501171.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000674018.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501271.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000674027.1:n.111-40_111-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000674041.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000500956.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000674052.1:c.275-40_275-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501057.1:n.275-40_275-39insGGTGTGGGGGGGGGGGGGGGGGGGC...
ENST00000674093.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501303.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000674119.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501217.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000674130.1:n.269-40_269-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000674135.1:c.233-40_233-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501178.1:n.233-40_233-39insGGTGTGGGGGGGGGGGGGGGGGGGC...
ENST00000674139.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501054.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000674146.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501175.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000674149.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000501112.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000318023.11:c.1907-40_1907-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000326281.8:n.1907-40_1907-39insGGTGTGGGGGGGGGGGGGGGGGG...
ENST00000337571.8:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000336840.4:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000349748.7:c.1775-40_1775-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000183936.4:n.1775-40_1775-39insGGTGTGGGGGGGGGGGGGGGGGG...
ENST00000356316.7:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000348667.4:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000357568.7:c.2033-40_2033-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000350181.3:n.2033-40_2033-39insGGTGTGGGGGGGGGGGGGGGGGG...
ENST00000397163.7:c.2051-40_2051-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000380349.3:n.2051-40_2051-39insGGTGTGGGGGGGGGGGGGGGGGG...
ENST00000397200.8:c.515-40_515-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000380384.4:n.515-40_515-39insGGTGTGGGGGGGGGGGGGGGGGGGC...
ENST00000397204.8:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000380387.4:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000466222.6:n.974-40_974-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000561817.5:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000456575.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000562199.1:n.59-40_59-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000564503.5:c.148-40_148-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000565274.5:c.263-40_263-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000457759.1:n.263-40_263-39insGGTGTGGGGGGGGGGGGGGGGGGGC...
ENST00000565559.5:c.233-40_233-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000457878.1:n.233-40_233-39insGGTGTGGGGGGGGGGGGGGGGGGGC...
ENST00000567071.5:c.531-40_531-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT
ENST00000569136.5:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000455254.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCC...
ENST00000569827.5:c.383-40_383-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	ENSP00000454379.1:n.383-40_383-39insGGTGTGGGGGGGGGGGGGGGGGGGC...
NM_000070.2:c.2051-40_2051-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_000061.1:n.2051-40_2051-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCC...
NM_024344.1:c.2033-40_2033-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_077320.1:n.2033-40_2033-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCC...
NM_173087.1:c.1775-40_1775-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_775110.1:n.1775-40_1775-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCC...
NM_173088.1:c.515-40_515-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_775111.1:n.515-40_515-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCC...
NM_173089.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_775112.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAG...
NM_173090.1:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_775113.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAG...
NM_000070.3:c.2051-40_2051-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT MANE Select	NP_000061.1:n.2051-40_2051-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCC...
NM_024344.2:c.2033-40_2033-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_077320.1:n.2033-40_2033-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCC...
NM_173087.2:c.1775-40_1775-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_775110.1:n.1775-40_1775-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCC...
NM_173088.2:c.515-40_515-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_775111.1:n.515-40_515-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCC...
NM_173089.2:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_775112.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAG...
NM_173090.2:c.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAGTCCCGT	NP_775113.1:n.56-40_56-39insGGTGTGGGGGGGGGGGGGGGGGGGCCCCCCCAG...