Canonical Allele Identifier: CA347485
Community Standard Title: NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295LeufsTer?)
Gene: CAPN3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42390034_42390037delinsCTT , CM000677.2:g.42390034_42390037delinsCTT GRCh38
NC_000015.9:g.42682232_42682235delinsCTT , CM000677.1:g.42682232_42682235delinsCTT GRCh37
NC_000015.8:g.40469524_40469527delinsCTT NCBI36
NG_008660.1:g.46932_46935delinsCTT

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.883_886delinsCTT MANE Select NP_000061.1:p.Asp295LeufsTer?
ENST00000397163.8:c.883_886delinsCTT MANE Select ENSP00000380349.3:p.Asp295LeufsTer?
NM_000070.2:c.883_886delinsCTT NP_000061.1:p.Asp295LeufsTer?
NM_024344.1:c.883_886delinsCTT NP_077320.1:p.Asp295LeufsTer?
NM_024344.2:c.883_886delinsCTT NP_077320.1:p.Asp295LeufsTer?
NM_173087.1:c.801+938_801+941delinsCTT NP_775110.1:n.801+938_801+941delinsCTT
NM_173087.2:c.801+938_801+941delinsCTT NP_775110.1:n.801+938_801+941delinsCTT
ENST00000318023.11:c.801+938_801+941delinsCTT ENSP00000326281.8:n.801+938_801+941delinsCTT
ENST00000349748.7:c.801+938_801+941delinsCTT ENSP00000183936.4:n.801+938_801+941delinsCTT
ENST00000349748.8:c.801+938_801+941delinsCTT ENSP00000183936.4:n.801+938_801+941delinsCTT
ENST00000357568.7:c.883_886delinsCTT ENSP00000350181.3:p.Asp295LeufsTer?
ENST00000357568.8:c.883_886delinsCTT ENSP00000350181.3:p.Asp295LeufsTer?
ENST00000397163.7:c.883_886delinsCTT ENSP00000380349.3:p.Asp295LeufsTer?
ENST00000466369.5:n.1392_1395delinsCTT
ENST00000483208.5:n.1114_1117delinsCTT
ENST00000495723.1:n.1114_1117delinsCTT
ENST00000549793.5:n.1114_1117delinsCTT
ENST00000638141.2:n.816+938_816+941delinsCTT
ENST00000673705.1:c.70+5482_70+5485delinsCTT ENSP00000501021.1:n.70+5482_70+5485delinsCTT
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