Canonical Allele Identifier: CA969127271

Gene: CAPN3

Linked Data

• dbSNP Id: rs1485705235
• gnomAD v3: 15-42401481-C-CT
• gnomAD v4: 15-42401481-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401481_42401482insT , CM000677.2:g.42401481_42401482insT	GRCh38
NC_000015.9:g.42693679_42693680insT , CM000677.1:g.42693679_42693680insT	GRCh37
NC_000015.8:g.40480971_40480972insT	NCBI36
NG_008660.1:g.58379_58380insT

Transcript Alleles

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