Canonical Allele Identifier: CA2628027753

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42360050-C-CGGATGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360051_42360057dup , CM000677.2:g.42360051_42360057dup	GRCh38
NC_000015.9:g.42652249_42652255dup , CM000677.1:g.42652249_42652255dup	GRCh37
NC_000015.8:g.40439541_40439547dup	NCBI36
NG_008660.1:g.16949_16955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.246_252dup	ENSP00000183936.4:p.Thr85GlyfsTer2
ENST00000357568.8:c.246_252dup	ENSP00000350181.3:p.Thr85GlyfsTer2
ENST00000397163.8:c.246_252dup MANE Select	ENSP00000380349.3:p.Thr85GlyfsTer2
ENST00000466369.5:n.540+5598_540+5604dup
ENST00000483208.5:n.540+5598_540+5604dup
ENST00000495723.1:n.540+5598_540+5604dup
ENST00000549793.5:n.540+5598_540+5604dup
ENST00000318023.11:c.246_252dup	ENSP00000326281.8:p.Thr85GlyfsTer2
ENST00000349748.7:c.246_252dup	ENSP00000183936.4:p.Thr85GlyfsTer2
ENST00000357568.7:c.246_252dup	ENSP00000350181.3:p.Thr85GlyfsTer2
ENST00000397163.7:c.246_252dup	ENSP00000380349.3:p.Thr85GlyfsTer2
NM_000070.2:c.246_252dup	NP_000061.1:p.Thr85GlyfsTer2
NM_024344.1:c.246_252dup	NP_077320.1:p.Thr85GlyfsTer2
NM_173087.1:c.246_252dup	NP_775110.1:p.Thr85GlyfsTer2
NM_000070.3:c.246_252dup MANE Select	NP_000061.1:p.Thr85GlyfsTer2
NM_024344.2:c.246_252dup	NP_077320.1:p.Thr85GlyfsTer2
NM_173087.2:c.246_252dup	NP_775110.1:p.Thr85GlyfsTer2