Canonical Allele Identifier: CA269843611

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1293854
• ClinVar RCV Id: RCV001715828
• dbSNP Id: rs35924291
• gnomAD v2: 15-42693671-GC-G
• gnomAD v3: 15-42401473-GC-G
• gnomAD v4: 15-42401473-GC-G
• COSMIC: COSN1176779 ; COSN1176780 ; COSN1176781
• MyVariant Identifiers: chr15:g.42693674del (hg19) ; chr15:g.42693672del (hg19) ; chr15:g.42401476del (hg38) ; chr15:g.42401474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401487del , CM000677.2:g.42401487del	GRCh38
NC_000015.9:g.42693685del , CM000677.1:g.42693685del	GRCh37
NC_000015.8:g.40480977del	NCBI36
NG_008660.1:g.58385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-154del	ENSP00000183936.4:n.1211-154del
ENST00000357568.8:c.1355-154del	ENSP00000350181.3:n.1355-154del
ENST00000397163.8:c.1355-154del MANE Select	ENSP00000380349.3:n.1355-154del
ENST00000466369.5:n.1864-154del
ENST00000483208.5:n.1586-154del
ENST00000495723.1:n.1586-154del
ENST00000549793.5:n.1586-154del
ENST00000638141.2:n.1226-154del
ENST00000673705.1:c.309+1835del	ENSP00000501021.1:n.309+1835del
ENST00000318023.11:c.1211-154del	ENSP00000326281.8:n.1211-154del
ENST00000349748.7:c.1211-154del	ENSP00000183936.4:n.1211-154del
ENST00000357568.7:c.1355-154del	ENSP00000350181.3:n.1355-154del
ENST00000397163.7:c.1355-154del	ENSP00000380349.3:n.1355-154del
NM_000070.2:c.1355-154del	NP_000061.1:n.1355-154del
NM_024344.1:c.1355-154del	NP_077320.1:n.1355-154del
NM_173087.1:c.1211-154del	NP_775110.1:n.1211-154del
NM_000070.3:c.1355-154del MANE Select	NP_000061.1:n.1355-154del
NM_024344.2:c.1355-154del	NP_077320.1:n.1355-154del
NM_173087.2:c.1211-154del	NP_775110.1:n.1211-154del