Canonical Allele Identifier: CA916083413

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 850654
• ClinVar RCV Id: RCV001054867
• dbSNP Id: rs2053485642

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389091del , CM000677.2:g.42389091del	GRCh38
NC_000015.9:g.42681289del , CM000677.1:g.42681289del	GRCh37
NC_000015.8:g.40468581del	NCBI36
NG_008660.1:g.45989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.796del	ENSP00000183936.4:p.Ile266LeufsTer?
ENST00000357568.8:c.796del	ENSP00000350181.3:p.Ile266LeufsTer7
ENST00000397163.8:c.796del MANE Select	ENSP00000380349.3:p.Ile266LeufsTer7
ENST00000466369.5:n.1305del
ENST00000483208.5:n.1027del
ENST00000495723.1:n.1027del
ENST00000549793.5:n.1027del
ENST00000638141.2:n.811del
ENST00000673705.1:c.70+4539del	ENSP00000501021.1:n.70+4539del
ENST00000318023.11:c.796del	ENSP00000326281.8:p.Ile266LeufsTer?
ENST00000349748.7:c.796del	ENSP00000183936.4:p.Ile266LeufsTer?
ENST00000357568.7:c.796del	ENSP00000350181.3:p.Ile266LeufsTer7
ENST00000397163.7:c.796del	ENSP00000380349.3:p.Ile266LeufsTer7
NM_000070.2:c.796del	NP_000061.1:p.Ile266LeufsTer7
NM_024344.1:c.796del	NP_077320.1:p.Ile266LeufsTer7
NM_173087.1:c.796del	NP_775110.1:p.Ile266LeufsTer?
NM_000070.3:c.796del MANE Select	NP_000061.1:p.Ile266LeufsTer7
NM_024344.2:c.796del	NP_077320.1:p.Ile266LeufsTer7
NM_173087.2:c.796del	NP_775110.1:p.Ile266LeufsTer?