Canonical Allele Identifier: CA712875339

Gene: CAPN3

Linked Data

• dbSNP Id: rs1197943261
• gnomAD v3: 15-42360226-AG-A
• gnomAD v4: 15-42360226-AG-A
• MyVariant Identifiers: chr15:g.42652425del (hg19) ; chr15:g.42360227del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360227del , CM000677.2:g.42360227del	GRCh38
NC_000015.9:g.42652425del , CM000677.1:g.42652425del	GRCh37
NC_000015.8:g.40439717del	NCBI36
NG_008660.1:g.17125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.309+113del	ENSP00000183936.4:n.309+113del
ENST00000357568.8:c.309+113del	ENSP00000350181.3:n.309+113del
ENST00000397163.8:c.309+113del MANE Select	ENSP00000380349.3:n.309+113del
ENST00000466369.5:n.540+5774del
ENST00000483208.5:n.540+5774del
ENST00000495723.1:n.540+5774del
ENST00000549793.5:n.540+5774del
ENST00000318023.11:c.309+113del	ENSP00000326281.8:n.309+113del
ENST00000349748.7:c.309+113del	ENSP00000183936.4:n.309+113del
ENST00000357568.7:c.309+113del	ENSP00000350181.3:n.309+113del
ENST00000397163.7:c.309+113del	ENSP00000380349.3:n.309+113del
NM_000070.2:c.309+113del	NP_000061.1:n.309+113del
NM_024344.1:c.309+113del	NP_077320.1:n.309+113del
NM_173087.1:c.309+113del	NP_775110.1:n.309+113del
NM_000070.3:c.309+113del MANE Select	NP_000061.1:n.309+113del
NM_024344.2:c.309+113del	NP_077320.1:n.309+113del
NM_173087.2:c.309+113del	NP_775110.1:n.309+113del