Canonical Allele Identifier: CA2172718808

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053868358
• gnomAD v4: 15-42401542-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401543dup , CM000677.2:g.42401543dup	GRCh38
NC_000015.9:g.42693741dup , CM000677.1:g.42693741dup	GRCh37
NC_000015.8:g.40481033dup	NCBI36
NG_008660.1:g.58441dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-98dup	ENSP00000183936.4:n.1211-98dup
ENST00000357568.8:c.1355-98dup	ENSP00000350181.3:n.1355-98dup
ENST00000397163.8:c.1355-98dup MANE Select	ENSP00000380349.3:n.1355-98dup
ENST00000466369.5:n.1864-98dup
ENST00000483208.5:n.1586-98dup
ENST00000495723.1:n.1586-98dup
ENST00000549793.5:n.1586-98dup
ENST00000638141.2:n.1226-98dup
ENST00000673705.1:c.309+1891dup	ENSP00000501021.1:n.309+1891dup
ENST00000318023.11:c.1211-98dup	ENSP00000326281.8:n.1211-98dup
ENST00000349748.7:c.1211-98dup	ENSP00000183936.4:n.1211-98dup
ENST00000357568.7:c.1355-98dup	ENSP00000350181.3:n.1355-98dup
ENST00000397163.7:c.1355-98dup	ENSP00000380349.3:n.1355-98dup
NM_000070.2:c.1355-98dup	NP_000061.1:n.1355-98dup
NM_024344.1:c.1355-98dup	NP_077320.1:n.1355-98dup
NM_173087.1:c.1211-98dup	NP_775110.1:n.1211-98dup
NM_000070.3:c.1355-98dup MANE Select	NP_000061.1:n.1355-98dup
NM_024344.2:c.1355-98dup	NP_077320.1:n.1355-98dup
NM_173087.2:c.1211-98dup	NP_775110.1:n.1211-98dup