Canonical Allele Identifier: CA712895444

Gene: CAPN3

Linked Data

• dbSNP Id: rs1171313311
• MyVariant Identifiers: chr15:g.42681225_42681226insC (hg19) ; chr15:g.42389027_42389028insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389029dup , CM000677.2:g.42389029dup	GRCh38
NC_000015.9:g.42681227dup , CM000677.1:g.42681227dup	GRCh37
NC_000015.8:g.40468519dup	NCBI36
NG_008660.1:g.45927dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.734dup	ENSP00000183936.4:p.Ser246Ter
ENST00000357568.8:c.734dup	ENSP00000350181.3:p.Ser246Ter
ENST00000397163.8:c.734dup MANE Select	ENSP00000380349.3:p.Ser246Ter
ENST00000466369.5:n.1243dup
ENST00000483208.5:n.965dup
ENST00000495723.1:n.965dup
ENST00000549793.5:n.965dup
ENST00000638141.2:n.749dup
ENST00000673705.1:c.70+4477dup	ENSP00000501021.1:n.70+4477dup
ENST00000318023.11:c.734dup	ENSP00000326281.8:p.Ser246Ter
ENST00000349748.7:c.734dup	ENSP00000183936.4:p.Ser246Ter
ENST00000357568.7:c.734dup	ENSP00000350181.3:p.Ser246Ter
ENST00000397163.7:c.734dup	ENSP00000380349.3:p.Ser246Ter
NM_000070.2:c.734dup	NP_000061.1:p.Ser246Ter
NM_024344.1:c.734dup	NP_077320.1:p.Ser246Ter
NM_173087.1:c.734dup	NP_775110.1:p.Ser246Ter
NM_000070.3:c.734dup MANE Select	NP_000061.1:p.Ser246Ter
NM_024344.2:c.734dup	NP_077320.1:p.Ser246Ter
NM_173087.2:c.734dup	NP_775110.1:p.Ser246Ter