Canonical Allele Identifier: CA618001481
Gene: CAPN3 HGNC NCBI

Linked Data

dbSNP Id: rs1566965982

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42359965_42359967del , CM000677.2:g.42359965_42359967del GRCh38
NC_000015.9:g.42652163_42652165del , CM000677.1:g.42652163_42652165del GRCh37
NC_000015.8:g.40439455_40439457del NCBI36
NG_008660.1:g.16863_16865del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.160_162del ENSP00000183936.4:p.Ile54del
ENST00000357568.8:c.160_162del ENSP00000350181.3:p.Ile54del
ENST00000397163.8:c.160_162del MANE Select ENSP00000380349.3:p.Ile54del
ENST00000466369.5:n.540+5512_540+5514del
ENST00000483208.5:n.540+5512_540+5514del
ENST00000495723.1:n.540+5512_540+5514del
ENST00000549793.5:n.540+5512_540+5514del
ENST00000318023.11:c.160_162del ENSP00000326281.8:p.Ile54del
ENST00000349748.7:c.160_162del ENSP00000183936.4:p.Ile54del
ENST00000357568.7:c.160_162del ENSP00000350181.3:p.Ile54del
ENST00000397163.7:c.160_162del ENSP00000380349.3:p.Ile54del
NM_000070.2:c.160_162del NP_000061.1:p.Ile54del
NM_024344.1:c.160_162del NP_077320.1:p.Ile54del
NM_173087.1:c.160_162del NP_775110.1:p.Ile54del
NM_000070.3:c.160_162del MANE Select NP_000061.1:p.Ile54del
NM_024344.2:c.160_162del NP_077320.1:p.Ile54del
NM_173087.2:c.160_162del NP_775110.1:p.Ile54del