Canonical Allele Identifier: CA2172697341

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359877_42359886delinsTCACCCGGCC , CM000677.2:g.42359877_42359886delinsTCACCCGGCC	GRCh38
NC_000015.9:g.42652075_42652084delinsTCACCCGGCC , CM000677.1:g.42652075_42652084delinsTCACCCGGCC	GRCh37
NC_000015.8:g.40439367_40439376delinsTCACCCGGCC	NCBI36
NG_008660.1:g.16775_16784delinsTCACCCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.72_81delinsTCACCCGGCC	ENSP00000183936.4:p.Pro24=
ENST00000357568.8:c.72_81delinsTCACCCGGCC	ENSP00000350181.3:p.Pro24=
ENST00000397163.8:c.72_81delinsTCACCCGGCC MANE Select	ENSP00000380349.3:p.Pro24=
ENST00000466369.5:n.540+5424_540+5433delinsTCACCCGGCC
ENST00000483208.5:n.540+5424_540+5433delinsTCACCCGGCC
ENST00000495723.1:n.540+5424_540+5433delinsTCACCCGGCC
ENST00000549793.5:n.540+5424_540+5433delinsTCACCCGGCC
ENST00000318023.11:c.72_81delinsTCACCCGGCC	ENSP00000326281.8:p.Pro24=
ENST00000349748.7:c.72_81delinsTCACCCGGCC	ENSP00000183936.4:p.Pro24=
ENST00000357568.7:c.72_81delinsTCACCCGGCC	ENSP00000350181.3:p.Pro24=
ENST00000397163.7:c.72_81delinsTCACCCGGCC	ENSP00000380349.3:p.Pro24=
NM_000070.2:c.72_81delinsTCACCCGGCC	NP_000061.1:p.Pro24=
NM_024344.1:c.72_81delinsTCACCCGGCC	NP_077320.1:p.Pro24=
NM_173087.1:c.72_81delinsTCACCCGGCC	NP_775110.1:p.Pro24=
NM_000070.3:c.72_81delinsTCACCCGGCC MANE Select	NP_000061.1:p.Pro24=
NM_024344.2:c.72_81delinsTCACCCGGCC	NP_077320.1:p.Pro24=
NM_173087.2:c.72_81delinsTCACCCGGCC	NP_775110.1:p.Pro24=