Canonical Allele Identifier: CA2697554369

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2702508
• ClinVar RCV Id: RCV003518000

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389041dup , CM000677.2:g.42389041dup	GRCh38
NC_000015.9:g.42681239dup , CM000677.1:g.42681239dup	GRCh37
NC_000015.8:g.40468531dup	NCBI36
NG_008660.1:g.45939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.746dup	ENSP00000183936.4:p.Tyr249Ter
ENST00000357568.8:c.746dup	ENSP00000350181.3:p.Tyr249Ter
ENST00000397163.8:c.746dup MANE Select	ENSP00000380349.3:p.Tyr249Ter
ENST00000466369.5:n.1255dup
ENST00000483208.5:n.977dup
ENST00000495723.1:n.977dup
ENST00000549793.5:n.977dup
ENST00000638141.2:n.761dup
ENST00000673705.1:c.70+4489dup	ENSP00000501021.1:n.70+4489dup
ENST00000318023.11:c.746dup	ENSP00000326281.8:p.Tyr249Ter
ENST00000349748.7:c.746dup	ENSP00000183936.4:p.Tyr249Ter
ENST00000357568.7:c.746dup	ENSP00000350181.3:p.Tyr249Ter
ENST00000397163.7:c.746dup	ENSP00000380349.3:p.Tyr249Ter
NM_000070.2:c.746dup	NP_000061.1:p.Tyr249Ter
NM_024344.1:c.746dup	NP_077320.1:p.Tyr249Ter
NM_173087.1:c.746dup	NP_775110.1:p.Tyr249Ter
NM_000070.3:c.746dup MANE Select	NP_000061.1:p.Tyr249Ter
NM_024344.2:c.746dup	NP_077320.1:p.Tyr249Ter
NM_173087.2:c.746dup	NP_775110.1:p.Tyr249Ter