Canonical Allele Identifier: CA2172719407

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053885301

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401970_42401971insA , CM000677.2:g.42401970_42401971insA	GRCh38
NC_000015.9:g.42694168_42694169insA , CM000677.1:g.42694168_42694169insA	GRCh37
NC_000015.8:g.40481460_40481461insA	NCBI36
NG_008660.1:g.58868_58869insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1381-154_1381-153insA	ENSP00000183936.4:n.1381-154_1381-153insA
ENST00000357568.8:c.1525-154_1525-153insA	ENSP00000350181.3:n.1525-154_1525-153insA
ENST00000397163.8:c.1525-154_1525-153insA MANE Select	ENSP00000380349.3:n.1525-154_1525-153insA
ENST00000466369.5:n.2034-154_2034-153insA
ENST00000483208.5:n.1756-154_1756-153insA
ENST00000495723.1:n.1756-154_1756-153insA
ENST00000549793.5:n.1756-154_1756-153insA
ENST00000638141.2:n.1396-154_1396-153insA
ENST00000673705.1:c.309+2318_309+2319insA	ENSP00000501021.1:n.309+2318_309+2319insA
ENST00000673813.1:n.23+42_23+43insA
ENST00000318023.11:c.1381-154_1381-153insA	ENSP00000326281.8:n.1381-154_1381-153insA
ENST00000349748.7:c.1381-154_1381-153insA	ENSP00000183936.4:n.1381-154_1381-153insA
ENST00000357568.7:c.1525-154_1525-153insA	ENSP00000350181.3:n.1525-154_1525-153insA
ENST00000397163.7:c.1525-154_1525-153insA	ENSP00000380349.3:n.1525-154_1525-153insA
NM_000070.2:c.1525-154_1525-153insA	NP_000061.1:n.1525-154_1525-153insA
NM_024344.1:c.1525-154_1525-153insA	NP_077320.1:n.1525-154_1525-153insA
NM_173087.1:c.1381-154_1381-153insA	NP_775110.1:n.1381-154_1381-153insA
NM_000070.3:c.1525-154_1525-153insA MANE Select	NP_000061.1:n.1525-154_1525-153insA
NM_024344.2:c.1525-154_1525-153insA	NP_077320.1:n.1525-154_1525-153insA
NM_173087.2:c.1381-154_1381-153insA	NP_775110.1:n.1381-154_1381-153insA