Canonical Allele Identifier: CA969138440

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053481310
• gnomAD v3: 15-42389000-GGC-G
• gnomAD v4: 15-42389000-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389001_42389002del , CM000677.2:g.42389001_42389002del	GRCh38
NC_000015.9:g.42681199_42681200del , CM000677.1:g.42681199_42681200del	GRCh37
NC_000015.8:g.40468491_40468492del	NCBI36
NG_008660.1:g.45899_45900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.706_707del	ENSP00000183936.4:p.Ala236ArgfsTer4
ENST00000357568.8:c.706_707del	ENSP00000350181.3:p.Ala236ArgfsTer4
ENST00000397163.8:c.706_707del MANE Select	ENSP00000380349.3:p.Ala236ArgfsTer4
ENST00000466369.5:n.1215_1216del
ENST00000483208.5:n.937_938del
ENST00000495723.1:n.937_938del
ENST00000549793.5:n.937_938del
ENST00000638141.2:n.721_722del
ENST00000673705.1:c.70+4449_70+4450del	ENSP00000501021.1:n.70+4449_70+4450del
ENST00000318023.11:c.706_707del	ENSP00000326281.8:p.Ala236ArgfsTer4
ENST00000349748.7:c.706_707del	ENSP00000183936.4:p.Ala236ArgfsTer4
ENST00000357568.7:c.706_707del	ENSP00000350181.3:p.Ala236ArgfsTer4
ENST00000397163.7:c.706_707del	ENSP00000380349.3:p.Ala236ArgfsTer4
NM_000070.2:c.706_707del	NP_000061.1:p.Ala236ArgfsTer4
NM_024344.1:c.706_707del	NP_077320.1:p.Ala236ArgfsTer4
NM_173087.1:c.706_707del	NP_775110.1:p.Ala236ArgfsTer4
NM_000070.3:c.706_707del MANE Select	NP_000061.1:p.Ala236ArgfsTer4
NM_024344.2:c.706_707del	NP_077320.1:p.Ala236ArgfsTer4
NM_173087.2:c.706_707del	NP_775110.1:p.Ala236ArgfsTer4