Canonical Allele Identifier: CA7511349

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 553852
• ClinVar RCV Id: RCV000669378 ; RCV003140065 ; RCV003235338 ; RCV003472115
• dbSNP Id: rs746075428
• ExAC: 15:42693878 TGGA / T
• gnomAD v2: 15-42693878-TGGA-T
• gnomAD v3: 15-42401680-TGGA-T
• gnomAD v4: 15-42401680-TGGA-T
• MyVariant Identifiers: chr15:g.42693879_42693881del (hg19) ; chr15:g.42401687_42401689del (hg38) ; chr15:g.42401681_42401683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401687_42401689del , CM000677.2:g.42401687_42401689del	GRCh38
NC_000015.9:g.42693885_42693887del , CM000677.1:g.42693885_42693887del	GRCh37
NC_000015.8:g.40481177_40481179del	NCBI36
NG_008660.1:g.58585_58587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1257_1259del	ENSP00000183936.4:p.Glu419del
ENST00000357568.8:c.1401_1403del	ENSP00000350181.3:p.Glu467del
ENST00000397163.8:c.1401_1403del MANE Select	ENSP00000380349.3:p.Glu467del
ENST00000466369.5:n.1910_1912del
ENST00000483208.5:n.1632_1634del
ENST00000495723.1:n.1632_1634del
ENST00000549793.5:n.1632_1634del
ENST00000638141.2:n.1272_1274del
ENST00000673705.1:c.309+2035_309+2037del	ENSP00000501021.1:n.309+2035_309+2037del
ENST00000318023.11:c.1257_1259del	ENSP00000326281.8:p.Glu419del
ENST00000349748.7:c.1257_1259del	ENSP00000183936.4:p.Glu419del
ENST00000357568.7:c.1401_1403del	ENSP00000350181.3:p.Glu467del
ENST00000397163.7:c.1401_1403del	ENSP00000380349.3:p.Glu467del
NM_000070.2:c.1401_1403del	NP_000061.1:p.Glu467del
NM_024344.1:c.1401_1403del	NP_077320.1:p.Glu467del
NM_173087.1:c.1257_1259del	NP_775110.1:p.Glu419del
NM_000070.3:c.1401_1403del MANE Select	NP_000061.1:p.Glu467del
NM_024344.2:c.1401_1403del	NP_077320.1:p.Glu467del
NM_173087.2:c.1257_1259del	NP_775110.1:p.Glu419del