Canonical Allele Identifier: CA16619926

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 419065
• ClinVar RCV Id: RCV000482838 ; RCV000821006
• dbSNP Id: rs1064793620
• MyVariant Identifiers: chr15:g.42681235_42681236del (hg19) ; chr15:g.42389037_42389038del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389037_42389038del , CM000677.2:g.42389037_42389038del	GRCh38
NC_000015.9:g.42681235_42681236del , CM000677.1:g.42681235_42681236del	GRCh37
NC_000015.8:g.40468527_40468528del	NCBI36
NG_008660.1:g.45935_45936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.742_743del	ENSP00000183936.4:p.Met248ValfsTer19
ENST00000357568.8:c.742_743del	ENSP00000350181.3:p.Met248ValfsTer19
ENST00000397163.8:c.742_743del MANE Select	ENSP00000380349.3:p.Met248ValfsTer19
ENST00000466369.5:n.1251_1252del
ENST00000483208.5:n.973_974del
ENST00000495723.1:n.973_974del
ENST00000549793.5:n.973_974del
ENST00000638141.2:n.757_758del
ENST00000673705.1:c.70+4485_70+4486del	ENSP00000501021.1:n.70+4485_70+4486del
ENST00000318023.11:c.742_743del	ENSP00000326281.8:p.Met248ValfsTer19
ENST00000349748.7:c.742_743del	ENSP00000183936.4:p.Met248ValfsTer19
ENST00000357568.7:c.742_743del	ENSP00000350181.3:p.Met248ValfsTer19
ENST00000397163.7:c.742_743del	ENSP00000380349.3:p.Met248ValfsTer19
NM_000070.2:c.742_743del	NP_000061.1:p.Met248ValfsTer19
NM_024344.1:c.742_743del	NP_077320.1:p.Met248ValfsTer19
NM_173087.1:c.742_743del	NP_775110.1:p.Met248ValfsTer19
NM_000070.3:c.742_743del MANE Select	NP_000061.1:p.Met248ValfsTer19
NM_024344.2:c.742_743del	NP_077320.1:p.Met248ValfsTer19
NM_173087.2:c.742_743del	NP_775110.1:p.Met248ValfsTer19