Canonical Allele Identifier: CA10604416

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 283179
• ClinVar RCV Id: RCV000283334 ; RCV000725225
• dbSNP Id: rs886042573
• MyVariant Identifiers: chr15:g.42695198_42695199del (hg19) ; chr15:g.42403000_42403001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42403000_42403001del , CM000677.2:g.42403000_42403001del	GRCh38
NC_000015.9:g.42695198_42695199del , CM000677.1:g.42695198_42695199del	GRCh37
NC_000015.8:g.40482490_40482491del	NCBI36
NG_008660.1:g.59898_59899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1599_1600del	ENSP00000183936.4:p.Glu534GlyfsTer3
ENST00000357568.8:c.1743_1744del	ENSP00000350181.3:p.Glu582GlyfsTer3
ENST00000397163.8:c.1743_1744del MANE Select	ENSP00000380349.3:p.Glu582GlyfsTer3
ENST00000466369.5:n.2252_2253del
ENST00000483208.5:n.2632_2633del
ENST00000495723.1:n.2632_2633del
ENST00000549793.5:n.1974_1975del
ENST00000638141.2:n.1614_1615del
ENST00000673646.1:c.207_208del	ENSP00000501007.1:p.Glu70GlyfsTer3
ENST00000673705.1:c.309+3348_309+3349del	ENSP00000501021.1:n.309+3348_309+3349del
ENST00000673813.1:n.580+85_580+86del
ENST00000318023.11:c.1599_1600del	ENSP00000326281.8:p.Glu534GlyfsTer3
ENST00000349748.7:c.1599_1600del	ENSP00000183936.4:p.Glu534GlyfsTer3
ENST00000357568.7:c.1743_1744del	ENSP00000350181.3:p.Glu582GlyfsTer3
ENST00000397163.7:c.1743_1744del	ENSP00000380349.3:p.Glu582GlyfsTer3
ENST00000397200.8:c.207_208del	ENSP00000380384.4:p.Glu70GlyfsTer3
ENST00000567071.5:c.202_203del
ENST00000569827.5:c.207_208del	ENSP00000454379.1:p.Glu70GlyfsTer3
NM_000070.2:c.1743_1744del	NP_000061.1:p.Glu582GlyfsTer3
NM_024344.1:c.1743_1744del	NP_077320.1:p.Glu582GlyfsTer3
NM_173087.1:c.1599_1600del	NP_775110.1:p.Glu534GlyfsTer3
NM_173088.1:c.207_208del	NP_775111.1:p.Glu70GlyfsTer3
NM_000070.3:c.1743_1744del MANE Select	NP_000061.1:p.Glu582GlyfsTer3
NM_024344.2:c.1743_1744del	NP_077320.1:p.Glu582GlyfsTer3
NM_173087.2:c.1599_1600del	NP_775110.1:p.Glu534GlyfsTer3
NM_173088.2:c.207_208del	NP_775111.1:p.Glu70GlyfsTer3