Canonical Allele Identifier: CA617606530

Gene: CAPN3

Linked Data

• dbSNP Id: rs756905810
• gnomAD v2: 15-42652340-G-GT
• gnomAD v4: 15-42360142-G-GT
• MyVariant Identifiers: chr15:g.42652341_42652342insT (hg19)

Genomic Alleles

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

Transcript Alleles

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