Canonical Allele Identifier: CA7510899

Gene: CAPN3

Linked Data

• dbSNP Id: rs756905810
• ExAC: 15:42652340 GT / G
• gnomAD v2: 15-42652340-GT-G
• gnomAD v3: 15-42360142-GT-G
• gnomAD v4: 15-42360142-GT-G
• MyVariant Identifiers: chr15:g.42652341del (hg19) ; chr15:g.42360143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360146del , CM000677.2:g.42360146del	GRCh38
NC_000015.9:g.42652344del , CM000677.1:g.42652344del	GRCh37
NC_000015.8:g.40439636del	NCBI36
NG_008660.1:g.17044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.309+32del	ENSP00000183936.4:n.309+32del
ENST00000357568.8:c.309+32del	ENSP00000350181.3:n.309+32del
ENST00000397163.8:c.309+32del MANE Select	ENSP00000380349.3:n.309+32del
ENST00000466369.5:n.540+5693del
ENST00000483208.5:n.540+5693del
ENST00000495723.1:n.540+5693del
ENST00000549793.5:n.540+5693del
ENST00000318023.11:c.309+32del	ENSP00000326281.8:n.309+32del
ENST00000349748.7:c.309+32del	ENSP00000183936.4:n.309+32del
ENST00000357568.7:c.309+32del	ENSP00000350181.3:n.309+32del
ENST00000397163.7:c.309+32del	ENSP00000380349.3:n.309+32del
NM_000070.2:c.309+32del	NP_000061.1:n.309+32del
NM_024344.1:c.309+32del	NP_077320.1:n.309+32del
NM_173087.1:c.309+32del	NP_775110.1:n.309+32del
NM_000070.3:c.309+32del MANE Select	NP_000061.1:n.309+32del
NM_024344.2:c.309+32del	NP_077320.1:n.309+32del
NM_173087.2:c.309+32del	NP_775110.1:n.309+32del