Canonical Allele Identifier: CA617607506

Gene: CAPN3

Linked Data

• dbSNP Id: rs1566980195
• gnomAD v2: 15-42693674-C-CT
• gnomAD v3: 15-42401476-C-CT
• gnomAD v4: 15-42401476-C-CT
• MyVariant Identifiers: chr15:g.42693674_42693675insT (hg19) ; chr15:g.42401476_42401477insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401476_42401477insT , CM000677.2:g.42401476_42401477insT	GRCh38
NC_000015.9:g.42693674_42693675insT , CM000677.1:g.42693674_42693675insT	GRCh37
NC_000015.8:g.40480966_40480967insT	NCBI36
NG_008660.1:g.58374_58375insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-165_1211-164insT	ENSP00000183936.4:n.1211-165_1211-164insT
ENST00000357568.8:c.1355-165_1355-164insT	ENSP00000350181.3:n.1355-165_1355-164insT
ENST00000397163.8:c.1355-165_1355-164insT MANE Select	ENSP00000380349.3:n.1355-165_1355-164insT
ENST00000466369.5:n.1864-165_1864-164insT
ENST00000483208.5:n.1586-165_1586-164insT
ENST00000495723.1:n.1586-165_1586-164insT
ENST00000549793.5:n.1586-165_1586-164insT
ENST00000638141.2:n.1226-165_1226-164insT
ENST00000673705.1:c.309+1824_309+1825insT	ENSP00000501021.1:n.309+1824_309+1825insT
ENST00000318023.11:c.1211-165_1211-164insT	ENSP00000326281.8:n.1211-165_1211-164insT
ENST00000349748.7:c.1211-165_1211-164insT	ENSP00000183936.4:n.1211-165_1211-164insT
ENST00000357568.7:c.1355-165_1355-164insT	ENSP00000350181.3:n.1355-165_1355-164insT
ENST00000397163.7:c.1355-165_1355-164insT	ENSP00000380349.3:n.1355-165_1355-164insT
NM_000070.2:c.1355-165_1355-164insT	NP_000061.1:n.1355-165_1355-164insT
NM_024344.1:c.1355-165_1355-164insT	NP_077320.1:n.1355-165_1355-164insT
NM_173087.1:c.1211-165_1211-164insT	NP_775110.1:n.1211-165_1211-164insT
NM_000070.3:c.1355-165_1355-164insT MANE Select	NP_000061.1:n.1355-165_1355-164insT
NM_024344.2:c.1355-165_1355-164insT	NP_077320.1:n.1355-165_1355-164insT
NM_173087.2:c.1211-165_1211-164insT	NP_775110.1:n.1211-165_1211-164insT