Canonical Allele Identifier: CA391999654

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1269618
• ClinVar RCV Id: RCV001683776
• dbSNP Id: rs531854862
• gnomAD v2: 15-42693683-C-CT
• gnomAD v3: 15-42401485-C-CT
• gnomAD v4: 15-42401485-C-CT
• MyVariant Identifiers: chr15:g.42693683_42693684insT (hg19) ; chr15:g.42401485_42401486insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401485_42401486insT , CM000677.2:g.42401485_42401486insT	GRCh38
NC_000015.9:g.42693683_42693684insT , CM000677.1:g.42693683_42693684insT	GRCh37
NC_000015.8:g.40480975_40480976insT	NCBI36
NG_008660.1:g.58383_58384insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-156_1211-155insT	ENSP00000183936.4:n.1211-156_1211-155insT
ENST00000357568.8:c.1355-156_1355-155insT	ENSP00000350181.3:n.1355-156_1355-155insT
ENST00000397163.8:c.1355-156_1355-155insT MANE Select	ENSP00000380349.3:n.1355-156_1355-155insT
ENST00000466369.5:n.1864-156_1864-155insT
ENST00000483208.5:n.1586-156_1586-155insT
ENST00000495723.1:n.1586-156_1586-155insT
ENST00000549793.5:n.1586-156_1586-155insT
ENST00000638141.2:n.1226-156_1226-155insT
ENST00000673705.1:c.309+1833_309+1834insT	ENSP00000501021.1:n.309+1833_309+1834insT
ENST00000318023.11:c.1211-156_1211-155insT	ENSP00000326281.8:n.1211-156_1211-155insT
ENST00000349748.7:c.1211-156_1211-155insT	ENSP00000183936.4:n.1211-156_1211-155insT
ENST00000357568.7:c.1355-156_1355-155insT	ENSP00000350181.3:n.1355-156_1355-155insT
ENST00000397163.7:c.1355-156_1355-155insT	ENSP00000380349.3:n.1355-156_1355-155insT
NM_000070.2:c.1355-156_1355-155insT	NP_000061.1:n.1355-156_1355-155insT
NM_024344.1:c.1355-156_1355-155insT	NP_077320.1:n.1355-156_1355-155insT
NM_173087.1:c.1211-156_1211-155insT	NP_775110.1:n.1211-156_1211-155insT
NM_000070.3:c.1355-156_1355-155insT MANE Select	NP_000061.1:n.1355-156_1355-155insT
NM_024344.2:c.1355-156_1355-155insT	NP_077320.1:n.1355-156_1355-155insT
NM_173087.2:c.1211-156_1211-155insT	NP_775110.1:n.1211-156_1211-155insT