Canonical Allele Identifier: CA2803913500
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42389173_42389174insCC , CM000677.2:g.42389173_42389174insCC GRCh38
NC_000015.9:g.42681371_42681372insCC , CM000677.1:g.42681371_42681372insCC GRCh37
NC_000015.8:g.40468663_40468664insCC NCBI36
NG_008660.1:g.46071_46072insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.801+77_801+78insCC ENSP00000183936.4:n.801+77_801+78insCC
ENST00000357568.8:c.801+77_801+78insCC ENSP00000350181.3:n.801+77_801+78insCC
ENST00000397163.8:c.801+77_801+78insCC MANE Select ENSP00000380349.3:n.801+77_801+78insCC
ENST00000466369.5:n.1310+77_1310+78insCC
ENST00000483208.5:n.1032+77_1032+78insCC
ENST00000495723.1:n.1032+77_1032+78insCC
ENST00000549793.5:n.1032+77_1032+78insCC
ENST00000638141.2:n.816+77_816+78insCC
ENST00000673705.1:c.70+4621_70+4622insCC ENSP00000501021.1:n.70+4621_70+4622insCC
ENST00000318023.11:c.801+77_801+78insCC ENSP00000326281.8:n.801+77_801+78insCC
ENST00000349748.7:c.801+77_801+78insCC ENSP00000183936.4:n.801+77_801+78insCC
ENST00000357568.7:c.801+77_801+78insCC ENSP00000350181.3:n.801+77_801+78insCC
ENST00000397163.7:c.801+77_801+78insCC ENSP00000380349.3:n.801+77_801+78insCC
NM_000070.2:c.801+77_801+78insCC NP_000061.1:n.801+77_801+78insCC
NM_024344.1:c.801+77_801+78insCC NP_077320.1:n.801+77_801+78insCC
NM_173087.1:c.801+77_801+78insCC NP_775110.1:n.801+77_801+78insCC
NM_000070.3:c.801+77_801+78insCC MANE Select NP_000061.1:n.801+77_801+78insCC
NM_024344.2:c.801+77_801+78insCC NP_077320.1:n.801+77_801+78insCC
NM_173087.2:c.801+77_801+78insCC NP_775110.1:n.801+77_801+78insCC