Canonical Allele Identifier: CA2739278830

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2845979
• ClinVar RCV Id: RCV003632040

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359941_42359950del , CM000677.2:g.42359941_42359950del	GRCh38
NC_000015.9:g.42652139_42652148del , CM000677.1:g.42652139_42652148del	GRCh37
NC_000015.8:g.40439431_40439440del	NCBI36
NG_008660.1:g.16839_16848del

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.136_145del	ENSP00000183936.4:p.Ile46AlafsTer8
ENST00000357568.8:c.136_145del	ENSP00000350181.3:p.Ile46AlafsTer8
ENST00000397163.8:c.136_145del MANE Select	ENSP00000380349.3:p.Ile46AlafsTer8
ENST00000466369.5:n.540+5488_540+5497del
ENST00000483208.5:n.540+5488_540+5497del
ENST00000495723.1:n.540+5488_540+5497del
ENST00000549793.5:n.540+5488_540+5497del
ENST00000318023.11:c.136_145del	ENSP00000326281.8:p.Ile46AlafsTer8
ENST00000349748.7:c.136_145del	ENSP00000183936.4:p.Ile46AlafsTer8
ENST00000357568.7:c.136_145del	ENSP00000350181.3:p.Ile46AlafsTer8
ENST00000397163.7:c.136_145del	ENSP00000380349.3:p.Ile46AlafsTer8
NM_000070.2:c.136_145del	NP_000061.1:p.Ile46AlafsTer8
NM_024344.1:c.136_145del	NP_077320.1:p.Ile46AlafsTer8
NM_173087.1:c.136_145del	NP_775110.1:p.Ile46AlafsTer8
NM_000070.3:c.136_145del MANE Select	NP_000061.1:p.Ile46AlafsTer8
NM_024344.2:c.136_145del	NP_077320.1:p.Ile46AlafsTer8
NM_173087.2:c.136_145del	NP_775110.1:p.Ile46AlafsTer8