Canonical Allele Identifier: CA618001553

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 551477
• ClinVar RCV Id: RCV000666547
• dbSNP Id: rs1334369407
• gnomAD v2: 15-42695164-TC-T
• MyVariant Identifiers: chr15:g.42695165del (hg19) ; chr15:g.42402968del (hg38) ; chr15:g.42402967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402968del , CM000677.2:g.42402968del	GRCh38
NC_000015.9:g.42695166del , CM000677.1:g.42695166del	GRCh37
NC_000015.8:g.40482458del	NCBI36
NG_008660.1:g.59866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1567del	ENSP00000183936.4:p.Leu523SerfsTer?
ENST00000357568.8:c.1711del	ENSP00000350181.3:p.Leu571SerfsTer?
ENST00000397163.8:c.1711del MANE Select	ENSP00000380349.3:p.Leu571SerfsTer24
ENST00000466369.5:n.2220del
ENST00000483208.5:n.2600del
ENST00000495723.1:n.2600del
ENST00000549793.5:n.1942del
ENST00000638141.2:n.1582del
ENST00000673646.1:c.175del	ENSP00000501007.1:p.Leu59SerfsTer?
ENST00000673705.1:c.309+3316del	ENSP00000501021.1:n.309+3316del
ENST00000673813.1:n.580+53del
ENST00000318023.11:c.1567del	ENSP00000326281.8:p.Leu523SerfsTer24
ENST00000349748.7:c.1567del	ENSP00000183936.4:p.Leu523SerfsTer?
ENST00000357568.7:c.1711del	ENSP00000350181.3:p.Leu571SerfsTer?
ENST00000397163.7:c.1711del	ENSP00000380349.3:p.Leu571SerfsTer24
ENST00000397200.8:c.175del	ENSP00000380384.4:p.Leu59SerfsTer24
ENST00000567071.5:c.170del
ENST00000569827.5:c.175del	ENSP00000454379.1:p.Leu59SerfsTer?
NM_000070.2:c.1711del	NP_000061.1:p.Leu571SerfsTer24
NM_024344.1:c.1711del	NP_077320.1:p.Leu571SerfsTer?
NM_173087.1:c.1567del	NP_775110.1:p.Leu523SerfsTer?
NM_173088.1:c.175del	NP_775111.1:p.Leu59SerfsTer24
NM_000070.3:c.1711del MANE Select	NP_000061.1:p.Leu571SerfsTer24
NM_024344.2:c.1711del	NP_077320.1:p.Leu571SerfsTer?
NM_173087.2:c.1567del	NP_775110.1:p.Leu523SerfsTer?
NM_173088.2:c.175del	NP_775111.1:p.Leu59SerfsTer24