Canonical Allele Identifier: CA2172712724
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42394109_42394111delinsCTT , CM000677.2:g.42394109_42394111delinsCTT GRCh38
NC_000015.9:g.42686307_42686309delinsCTT , CM000677.1:g.42686307_42686309delinsCTT GRCh37
NC_000015.8:g.40473599_40473601delinsCTT NCBI36
NG_008660.1:g.51007_51009delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.886-147_886-145delinsCTT ENSP00000183936.4:n.886-147_886-145delinsCTT
ENST00000357568.8:c.1030-147_1030-145delinsCTT ENSP00000350181.3:n.1030-147_1030-145delinsCTT
ENST00000397163.8:c.1030-147_1030-145delinsCTT MANE Select ENSP00000380349.3:n.1030-147_1030-145delinsCTT
ENST00000466369.5:n.1539-147_1539-145delinsCTT
ENST00000483208.5:n.1261-147_1261-145delinsCTT
ENST00000495723.1:n.1261-147_1261-145delinsCTT
ENST00000549793.5:n.1261-147_1261-145delinsCTT
ENST00000638141.2:n.901-147_901-145delinsCTT
ENST00000673658.1:n.14-147_14-145delinsCTT
ENST00000673705.1:c.71-2691_71-2689delinsCTT ENSP00000501021.1:n.71-2691_71-2689delinsCTT
ENST00000318023.11:c.886-147_886-145delinsCTT ENSP00000326281.8:n.886-147_886-145delinsCTT
ENST00000349748.7:c.886-147_886-145delinsCTT ENSP00000183936.4:n.886-147_886-145delinsCTT
ENST00000357568.7:c.1030-147_1030-145delinsCTT ENSP00000350181.3:n.1030-147_1030-145delinsCTT
ENST00000397163.7:c.1030-147_1030-145delinsCTT ENSP00000380349.3:n.1030-147_1030-145delinsCTT
NM_000070.2:c.1030-147_1030-145delinsCTT NP_000061.1:n.1030-147_1030-145delinsCTT
NM_024344.1:c.1030-147_1030-145delinsCTT NP_077320.1:n.1030-147_1030-145delinsCTT
NM_173087.1:c.886-147_886-145delinsCTT NP_775110.1:n.886-147_886-145delinsCTT
NM_000070.3:c.1030-147_1030-145delinsCTT MANE Select NP_000061.1:n.1030-147_1030-145delinsCTT
NM_024344.2:c.1030-147_1030-145delinsCTT NP_077320.1:n.1030-147_1030-145delinsCTT
NM_173087.2:c.886-147_886-145delinsCTT NP_775110.1:n.886-147_886-145delinsCTT