Canonical Allele Identifier: CA220352

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 17621
• ClinVar RCV Id: RCV000019188 ; RCV000348995 ; RCV000414969 ; RCV000078099 ; RCV000415373 ; RCV000415344 ; RCV000626574 ; RCV000626575 ; RCV000626576 ; RCV000626577 ; RCV000415100 ; RCV001197255 ; RCV001420332 ; RCV001849271 ; RCV002496413
• dbSNP Id: rs80338800
• ExAC: 15:42680000 CA / C
• gnomAD v2: 15-42680000-CA-C
• gnomAD v3: 15-42387802-CA-C
• gnomAD v4: 15-42387802-CA-C
• MyVariant Identifiers: chr15:g.42680002del (hg19) ; chr15:g.42680001del (hg19) ; chr15:g.42680002delA (hg19) ; chr15:g.42387804del (hg38) ; chr15:g.42387803del (hg38)
• PubMed: PMID:7720071 ; PMID:9266733 ; PMID:10330340 ; PMID:10679950 ; PMID:14578192 ; PMID:14981715 ; PMID:15351423 ; PMID:15689361 ; PMID:15725583 ; PMID:16100770 ; PMID:16141003 ; PMID:16650086 ; PMID:17318636 ; PMID:20301490 ; PMID:21204801 ; PMID:21984748 ; PMID:23891399 ; PMID:27142102

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42387804del , CM000677.2:g.42387804del	GRCh38
NC_000015.9:g.42680002del , CM000677.1:g.42680002del	GRCh37
NC_000015.8:g.40467294del	NCBI36
NG_008660.1:g.44702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.550del	ENSP00000183936.4:p.Thr184ArgfsTer?
ENST00000357568.8:c.550del	ENSP00000350181.3:p.Thr184ArgfsTer?
ENST00000397163.8:c.550del MANE Select	ENSP00000380349.3:p.Thr184ArgfsTer?
ENST00000466369.5:n.1059del
ENST00000483208.5:n.781del
ENST00000495723.1:n.781del
ENST00000549793.5:n.781del
ENST00000638141.2:n.565del
ENST00000673705.1:c.70+3252del	ENSP00000501021.1:n.70+3252del
ENST00000318023.11:c.550del	ENSP00000326281.8:p.Thr184ArgfsTer?
ENST00000349748.7:c.550del	ENSP00000183936.4:p.Thr184ArgfsTer?
ENST00000357568.7:c.550del	ENSP00000350181.3:p.Thr184ArgfsTer?
ENST00000397163.7:c.550del	ENSP00000380349.3:p.Thr184ArgfsTer?
NM_000070.2:c.550del	NP_000061.1:p.Thr184ArgfsTer?
NM_024344.1:c.550del	NP_077320.1:p.Thr184ArgfsTer?
NM_173087.1:c.550del	NP_775110.1:p.Thr184ArgfsTer?
NM_000070.3:c.550del MANE Select	NP_000061.1:p.Thr184ArgfsTer?
NM_024344.2:c.550del	NP_077320.1:p.Thr184ArgfsTer?
NM_173087.2:c.550del	NP_775110.1:p.Thr184ArgfsTer?