Canonical Allele Identifier: CA618001549

Gene: CAPN3

Linked Data

• dbSNP Id: rs1267992316
• gnomAD v2: 15-42681114-CCTCT-C
• MyVariant Identifiers: chr15:g.42681115_42681118del (hg19) ; chr15:g.42388917_42388920del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388921_42388924del , CM000677.2:g.42388921_42388924del	GRCh38
NC_000015.9:g.42681119_42681122del , CM000677.1:g.42681119_42681122del	GRCh37
NC_000015.8:g.40468411_40468414del	NCBI36
NG_008660.1:g.45819_45822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.633-7_633-4del	ENSP00000183936.4:n.633-7_633-4del
ENST00000357568.8:c.633-7_633-4del	ENSP00000350181.3:n.633-7_633-4del
ENST00000397163.8:c.633-7_633-4del MANE Select	ENSP00000380349.3:n.633-7_633-4del
ENST00000466369.5:n.1142-7_1142-4del
ENST00000483208.5:n.864-7_864-4del
ENST00000495723.1:n.864-7_864-4del
ENST00000549793.5:n.864-7_864-4del
ENST00000638141.2:n.648-7_648-4del
ENST00000673705.1:c.70+4369_70+4372del	ENSP00000501021.1:n.70+4369_70+4372del
ENST00000318023.11:c.633-7_633-4del	ENSP00000326281.8:n.633-7_633-4del
ENST00000349748.7:c.633-7_633-4del	ENSP00000183936.4:n.633-7_633-4del
ENST00000357568.7:c.633-7_633-4del	ENSP00000350181.3:n.633-7_633-4del
ENST00000397163.7:c.633-7_633-4del	ENSP00000380349.3:n.633-7_633-4del
NM_000070.2:c.633-7_633-4del	NP_000061.1:n.633-7_633-4del
NM_024344.1:c.633-7_633-4del	NP_077320.1:n.633-7_633-4del
NM_173087.1:c.633-7_633-4del	NP_775110.1:n.633-7_633-4del
NM_000070.3:c.633-7_633-4del MANE Select	NP_000061.1:n.633-7_633-4del
NM_024344.2:c.633-7_633-4del	NP_077320.1:n.633-7_633-4del
NM_173087.2:c.633-7_633-4del	NP_775110.1:n.633-7_633-4del