Canonical Allele Identifier: CA2697554366

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2765614
• ClinVar RCV Id: RCV003517689

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402969del , CM000677.2:g.42402969del	GRCh38
NC_000015.9:g.42695167del , CM000677.1:g.42695167del	GRCh37
NC_000015.8:g.40482459del	NCBI36
NG_008660.1:g.59867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1568del	ENSP00000183936.4:p.Leu523ProfsTer?
ENST00000357568.8:c.1712del	ENSP00000350181.3:p.Leu571ProfsTer?
ENST00000397163.8:c.1712del MANE Select	ENSP00000380349.3:p.Leu571ProfsTer24
ENST00000466369.5:n.2221del
ENST00000483208.5:n.2601del
ENST00000495723.1:n.2601del
ENST00000549793.5:n.1943del
ENST00000638141.2:n.1583del
ENST00000673646.1:c.176del	ENSP00000501007.1:p.Leu59ProfsTer?
ENST00000673705.1:c.309+3317del	ENSP00000501021.1:n.309+3317del
ENST00000673813.1:n.580+54del
ENST00000318023.11:c.1568del	ENSP00000326281.8:p.Leu523ProfsTer24
ENST00000349748.7:c.1568del	ENSP00000183936.4:p.Leu523ProfsTer?
ENST00000357568.7:c.1712del	ENSP00000350181.3:p.Leu571ProfsTer?
ENST00000397163.7:c.1712del	ENSP00000380349.3:p.Leu571ProfsTer24
ENST00000397200.8:c.176del	ENSP00000380384.4:p.Leu59ProfsTer24
ENST00000567071.5:c.171del
ENST00000569827.5:c.176del	ENSP00000454379.1:p.Leu59ProfsTer?
NM_000070.2:c.1712del	NP_000061.1:p.Leu571ProfsTer24
NM_024344.1:c.1712del	NP_077320.1:p.Leu571ProfsTer?
NM_173087.1:c.1568del	NP_775110.1:p.Leu523ProfsTer?
NM_173088.1:c.176del	NP_775111.1:p.Leu59ProfsTer24
NM_000070.3:c.1712del MANE Select	NP_000061.1:p.Leu571ProfsTer24
NM_024344.2:c.1712del	NP_077320.1:p.Leu571ProfsTer?
NM_173087.2:c.1568del	NP_775110.1:p.Leu523ProfsTer?
NM_173088.2:c.176del	NP_775111.1:p.Leu59ProfsTer24