Canonical Allele Identifier: CA2580089539

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2103985
• ClinVar RCV Id: RCV003041567

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389030_42389036del , CM000677.2:g.42389030_42389036del	GRCh38
NC_000015.9:g.42681228_42681234del , CM000677.1:g.42681228_42681234del	GRCh37
NC_000015.8:g.40468520_40468526del	NCBI36
NG_008660.1:g.45928_45934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.735_741del	ENSP00000183936.4:p.Ser246CysfsTer5
ENST00000357568.8:c.735_741del	ENSP00000350181.3:p.Ser246CysfsTer5
ENST00000397163.8:c.735_741del MANE Select	ENSP00000380349.3:p.Ser246CysfsTer5
ENST00000466369.5:n.1244_1250del
ENST00000483208.5:n.966_972del
ENST00000495723.1:n.966_972del
ENST00000549793.5:n.966_972del
ENST00000638141.2:n.750_756del
ENST00000673705.1:c.70+4478_70+4484del	ENSP00000501021.1:n.70+4478_70+4484del
ENST00000318023.11:c.735_741del	ENSP00000326281.8:p.Ser246CysfsTer5
ENST00000349748.7:c.735_741del	ENSP00000183936.4:p.Ser246CysfsTer5
ENST00000357568.7:c.735_741del	ENSP00000350181.3:p.Ser246CysfsTer5
ENST00000397163.7:c.735_741del	ENSP00000380349.3:p.Ser246CysfsTer5
NM_000070.2:c.735_741del	NP_000061.1:p.Ser246CysfsTer5
NM_024344.1:c.735_741del	NP_077320.1:p.Ser246CysfsTer5
NM_173087.1:c.735_741del	NP_775110.1:p.Ser246CysfsTer5
NM_000070.3:c.735_741del MANE Select	NP_000061.1:p.Ser246CysfsTer5
NM_024344.2:c.735_741del	NP_077320.1:p.Ser246CysfsTer5
NM_173087.2:c.735_741del	NP_775110.1:p.Ser246CysfsTer5