Canonical Allele Identifier: CA2628027762

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42360059-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360066_42360067dup , CM000677.2:g.42360066_42360067dup	GRCh38
NC_000015.9:g.42652264_42652265dup , CM000677.1:g.42652264_42652265dup	GRCh37
NC_000015.8:g.40439556_40439557dup	NCBI36
NG_008660.1:g.16964_16965dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.261_262dup	ENSP00000183936.4:p.Phe88SerfsTer?
ENST00000357568.8:c.261_262dup	ENSP00000350181.3:p.Phe88SerfsTer?
ENST00000397163.8:c.261_262dup MANE Select	ENSP00000380349.3:p.Phe88SerfsTer?
ENST00000466369.5:n.540+5613_540+5614dup
ENST00000483208.5:n.540+5613_540+5614dup
ENST00000495723.1:n.540+5613_540+5614dup
ENST00000549793.5:n.540+5613_540+5614dup
ENST00000318023.11:c.261_262dup	ENSP00000326281.8:p.Phe88SerfsTer?
ENST00000349748.7:c.261_262dup	ENSP00000183936.4:p.Phe88SerfsTer?
ENST00000357568.7:c.261_262dup	ENSP00000350181.3:p.Phe88SerfsTer?
ENST00000397163.7:c.261_262dup	ENSP00000380349.3:p.Phe88SerfsTer?
NM_000070.2:c.261_262dup	NP_000061.1:p.Phe88SerfsTer?
NM_024344.1:c.261_262dup	NP_077320.1:p.Phe88SerfsTer?
NM_173087.1:c.261_262dup	NP_775110.1:p.Phe88SerfsTer?
NM_000070.3:c.261_262dup MANE Select	NP_000061.1:p.Phe88SerfsTer?
NM_024344.2:c.261_262dup	NP_077320.1:p.Phe88SerfsTer?
NM_173087.2:c.261_262dup	NP_775110.1:p.Phe88SerfsTer?