Canonical Allele Identifier: CA618001554

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 503683
• ClinVar RCV Id: RCV000599177 ; RCV000796843
• dbSNP Id: rs1366387924
• gnomAD v2: 15-42695176-TC-T
• gnomAD v3: 15-42402978-TC-T
• gnomAD v4: 15-42402978-TC-T
• MyVariant Identifiers: chr15:g.42695177del (hg19) ; chr15:g.42402979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402979del , CM000677.2:g.42402979del	GRCh38
NC_000015.9:g.42695177del , CM000677.1:g.42695177del	GRCh37
NC_000015.8:g.40482469del	NCBI36
NG_008660.1:g.59877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1578del	ENSP00000183936.4:p.Ser527LeufsTer?
ENST00000357568.8:c.1722del	ENSP00000350181.3:p.Ser575LeufsTer?
ENST00000397163.8:c.1722del MANE Select	ENSP00000380349.3:p.Ser575LeufsTer20
ENST00000466369.5:n.2231del
ENST00000483208.5:n.2611del
ENST00000495723.1:n.2611del
ENST00000549793.5:n.1953del
ENST00000638141.2:n.1593del
ENST00000673646.1:c.186del	ENSP00000501007.1:p.Ser63LeufsTer?
ENST00000673705.1:c.309+3327del	ENSP00000501021.1:n.309+3327del
ENST00000673813.1:n.580+64del
ENST00000318023.11:c.1578del	ENSP00000326281.8:p.Ser527LeufsTer20
ENST00000349748.7:c.1578del	ENSP00000183936.4:p.Ser527LeufsTer?
ENST00000357568.7:c.1722del	ENSP00000350181.3:p.Ser575LeufsTer?
ENST00000397163.7:c.1722del	ENSP00000380349.3:p.Ser575LeufsTer20
ENST00000397200.8:c.186del	ENSP00000380384.4:p.Ser63LeufsTer20
ENST00000567071.5:c.181del
ENST00000569827.5:c.186del	ENSP00000454379.1:p.Ser63LeufsTer?
NM_000070.2:c.1722del	NP_000061.1:p.Ser575LeufsTer20
NM_024344.1:c.1722del	NP_077320.1:p.Ser575LeufsTer?
NM_173087.1:c.1578del	NP_775110.1:p.Ser527LeufsTer?
NM_173088.1:c.186del	NP_775111.1:p.Ser63LeufsTer20
NM_000070.3:c.1722del MANE Select	NP_000061.1:p.Ser575LeufsTer20
NM_024344.2:c.1722del	NP_077320.1:p.Ser575LeufsTer?
NM_173087.2:c.1578del	NP_775110.1:p.Ser527LeufsTer?
NM_173088.2:c.186del	NP_775111.1:p.Ser63LeufsTer20