Canonical Allele Identifier: CA2573150743

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1457417
• ClinVar RCV Id: RCV001953741
• dbSNP Id: rs2141102811

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360069_42360070del , CM000677.2:g.42360069_42360070del	GRCh38
NC_000015.9:g.42652267_42652268del , CM000677.1:g.42652267_42652268del	GRCh37
NC_000015.8:g.40439559_40439560del	NCBI36
NG_008660.1:g.16967_16968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.264_265del	ENSP00000183936.4:p.Phe88LeufsTer2
ENST00000357568.8:c.264_265del	ENSP00000350181.3:p.Phe88LeufsTer2
ENST00000397163.8:c.264_265del MANE Select	ENSP00000380349.3:p.Phe88LeufsTer2
ENST00000466369.5:n.540+5616_540+5617del
ENST00000483208.5:n.540+5616_540+5617del
ENST00000495723.1:n.540+5616_540+5617del
ENST00000549793.5:n.540+5616_540+5617del
ENST00000318023.11:c.264_265del	ENSP00000326281.8:p.Phe88LeufsTer2
ENST00000349748.7:c.264_265del	ENSP00000183936.4:p.Phe88LeufsTer2
ENST00000357568.7:c.264_265del	ENSP00000350181.3:p.Phe88LeufsTer2
ENST00000397163.7:c.264_265del	ENSP00000380349.3:p.Phe88LeufsTer2
NM_000070.2:c.264_265del	NP_000061.1:p.Phe88LeufsTer2
NM_024344.1:c.264_265del	NP_077320.1:p.Phe88LeufsTer2
NM_173087.1:c.264_265del	NP_775110.1:p.Phe88LeufsTer2
NM_000070.3:c.264_265del MANE Select	NP_000061.1:p.Phe88LeufsTer2
NM_024344.2:c.264_265del	NP_077320.1:p.Phe88LeufsTer2
NM_173087.2:c.264_265del	NP_775110.1:p.Phe88LeufsTer2