Canonical Allele Identifier: CA2172718654
Gene: CAPN3 HGNC NCBI

Linked Data

dbSNP Id: rs1555422052

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42401481_42401482insTC , CM000677.2:g.42401481_42401482insTC GRCh38
NC_000015.9:g.42693679_42693680insTC , CM000677.1:g.42693679_42693680insTC GRCh37
NC_000015.8:g.40480971_40480972insTC NCBI36
NG_008660.1:g.58379_58380insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1211-160_1211-159insTC ENSP00000183936.4:n.1211-160_1211-159insTC
ENST00000357568.8:c.1355-160_1355-159insTC ENSP00000350181.3:n.1355-160_1355-159insTC
ENST00000397163.8:c.1355-160_1355-159insTC MANE Select ENSP00000380349.3:n.1355-160_1355-159insTC
ENST00000466369.5:n.1864-160_1864-159insTC
ENST00000483208.5:n.1586-160_1586-159insTC
ENST00000495723.1:n.1586-160_1586-159insTC
ENST00000549793.5:n.1586-160_1586-159insTC
ENST00000638141.2:n.1226-160_1226-159insTC
ENST00000673705.1:c.309+1829_309+1830insTC ENSP00000501021.1:n.309+1829_309+1830insTC
ENST00000318023.11:c.1211-160_1211-159insTC ENSP00000326281.8:n.1211-160_1211-159insTC
ENST00000349748.7:c.1211-160_1211-159insTC ENSP00000183936.4:n.1211-160_1211-159insTC
ENST00000357568.7:c.1355-160_1355-159insTC ENSP00000350181.3:n.1355-160_1355-159insTC
ENST00000397163.7:c.1355-160_1355-159insTC ENSP00000380349.3:n.1355-160_1355-159insTC
NM_000070.2:c.1355-160_1355-159insTC NP_000061.1:n.1355-160_1355-159insTC
NM_024344.1:c.1355-160_1355-159insTC NP_077320.1:n.1355-160_1355-159insTC
NM_173087.1:c.1211-160_1211-159insTC NP_775110.1:n.1211-160_1211-159insTC
NM_000070.3:c.1355-160_1355-159insTC MANE Select NP_000061.1:n.1355-160_1355-159insTC
NM_024344.2:c.1355-160_1355-159insTC NP_077320.1:n.1355-160_1355-159insTC
NM_173087.2:c.1211-160_1211-159insTC NP_775110.1:n.1211-160_1211-159insTC