Canonical Allele Identifier: CA2172719428

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401980_42401984delinsTAGAG , CM000677.2:g.42401980_42401984delinsTAGAG	GRCh38
NC_000015.9:g.42694178_42694182delinsTAGAG , CM000677.1:g.42694178_42694182delinsTAGAG	GRCh37
NC_000015.8:g.40481470_40481474delinsTAGAG	NCBI36
NG_008660.1:g.58878_58882delinsTAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1381-144_1381-140delinsTAGAG	ENSP00000183936.4:n.1381-144_1381-140delinsTAGAG
ENST00000357568.8:c.1525-144_1525-140delinsTAGAG	ENSP00000350181.3:n.1525-144_1525-140delinsTAGAG
ENST00000397163.8:c.1525-144_1525-140delinsTAGAG MANE Select	ENSP00000380349.3:n.1525-144_1525-140delinsTAGAG
ENST00000466369.5:n.2034-144_2034-140delinsTAGAG
ENST00000483208.5:n.1756-144_1756-140delinsTAGAG
ENST00000495723.1:n.1756-144_1756-140delinsTAGAG
ENST00000549793.5:n.1756-144_1756-140delinsTAGAG
ENST00000638141.2:n.1396-144_1396-140delinsTAGAG
ENST00000673705.1:c.309+2328_309+2332delinsTAGAG	ENSP00000501021.1:n.309+2328_309+2332delinsTAGAG
ENST00000673813.1:n.23+52_23+56delinsTAGAG
ENST00000318023.11:c.1381-144_1381-140delinsTAGAG	ENSP00000326281.8:n.1381-144_1381-140delinsTAGAG
ENST00000349748.7:c.1381-144_1381-140delinsTAGAG	ENSP00000183936.4:n.1381-144_1381-140delinsTAGAG
ENST00000357568.7:c.1525-144_1525-140delinsTAGAG	ENSP00000350181.3:n.1525-144_1525-140delinsTAGAG
ENST00000397163.7:c.1525-144_1525-140delinsTAGAG	ENSP00000380349.3:n.1525-144_1525-140delinsTAGAG
NM_000070.2:c.1525-144_1525-140delinsTAGAG	NP_000061.1:n.1525-144_1525-140delinsTAGAG
NM_024344.1:c.1525-144_1525-140delinsTAGAG	NP_077320.1:n.1525-144_1525-140delinsTAGAG
NM_173087.1:c.1381-144_1381-140delinsTAGAG	NP_775110.1:n.1381-144_1381-140delinsTAGAG
NM_000070.3:c.1525-144_1525-140delinsTAGAG MANE Select	NP_000061.1:n.1525-144_1525-140delinsTAGAG
NM_024344.2:c.1525-144_1525-140delinsTAGAG	NP_077320.1:n.1525-144_1525-140delinsTAGAG
NM_173087.2:c.1381-144_1381-140delinsTAGAG	NP_775110.1:n.1381-144_1381-140delinsTAGAG