Canonical Allele Identifier: CA7510854

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2137650
• ClinVar RCV Id: RCV003064248
• dbSNP Id: rs768100265
• ExAC: 15:42652105 TG / T
• gnomAD v2: 15-42652105-TG-T
• gnomAD v4: 15-42359907-TG-T
• MyVariant Identifiers: chr15:g.42652106del (hg19) ; chr15:g.42359908del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359912del , CM000677.2:g.42359912del	GRCh38
NC_000015.9:g.42652110del , CM000677.1:g.42652110del	GRCh37
NC_000015.8:g.40439402del	NCBI36
NG_008660.1:g.16810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.107del	ENSP00000183936.4:p.Gly36ValfsTer21
ENST00000357568.8:c.107del	ENSP00000350181.3:p.Gly36ValfsTer21
ENST00000397163.8:c.107del MANE Select	ENSP00000380349.3:p.Gly36ValfsTer21
ENST00000466369.5:n.540+5459del
ENST00000483208.5:n.540+5459del
ENST00000495723.1:n.540+5459del
ENST00000549793.5:n.540+5459del
ENST00000318023.11:c.107del	ENSP00000326281.8:p.Gly36ValfsTer21
ENST00000349748.7:c.107del	ENSP00000183936.4:p.Gly36ValfsTer21
ENST00000357568.7:c.107del	ENSP00000350181.3:p.Gly36ValfsTer21
ENST00000397163.7:c.107del	ENSP00000380349.3:p.Gly36ValfsTer21
NM_000070.2:c.107del	NP_000061.1:p.Gly36ValfsTer21
NM_024344.1:c.107del	NP_077320.1:p.Gly36ValfsTer21
NM_173087.1:c.107del	NP_775110.1:p.Gly36ValfsTer21
NM_000070.3:c.107del MANE Select	NP_000061.1:p.Gly36ValfsTer21
NM_024344.2:c.107del	NP_077320.1:p.Gly36ValfsTer21
NM_173087.2:c.107del	NP_775110.1:p.Gly36ValfsTer21