Canonical Allele Identifier: CA2172720362

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402831_42402832delinsTC , CM000677.2:g.42402831_42402832delinsTC	GRCh38
NC_000015.9:g.42695029_42695030delinsTC , CM000677.1:g.42695029_42695030delinsTC	GRCh37
NC_000015.8:g.40482321_40482322delinsTC	NCBI36
NG_008660.1:g.59729_59730delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1430_1431delinsTC	ENSP00000183936.4:p.Phe477=
ENST00000357568.8:c.1574_1575delinsTC	ENSP00000350181.3:p.Phe525=
ENST00000397163.8:c.1574_1575delinsTC MANE Select	ENSP00000380349.3:p.Phe525=
ENST00000466369.5:n.2083_2084delinsTC
ENST00000483208.5:n.2463_2464delinsTC
ENST00000495723.1:n.2463_2464delinsTC
ENST00000549793.5:n.1805_1806delinsTC
ENST00000638141.2:n.1445_1446delinsTC
ENST00000673646.1:c.38_39delinsTC	ENSP00000501007.1:p.Phe13=
ENST00000673705.1:c.309+3179_309+3180delinsTC	ENSP00000501021.1:n.309+3179_309+3180delinsTC
ENST00000673813.1:n.496_497delinsTC
ENST00000318023.11:c.1430_1431delinsTC	ENSP00000326281.8:p.Phe477=
ENST00000349748.7:c.1430_1431delinsTC	ENSP00000183936.4:p.Phe477=
ENST00000357568.7:c.1574_1575delinsTC	ENSP00000350181.3:p.Phe525=
ENST00000397163.7:c.1574_1575delinsTC	ENSP00000380349.3:p.Phe525=
ENST00000397200.8:c.38_39delinsTC	ENSP00000380384.4:p.Phe13=
ENST00000567071.5:c.33_34delinsTC
ENST00000569827.5:c.38_39delinsTC	ENSP00000454379.1:p.Phe13=
NM_000070.2:c.1574_1575delinsTC	NP_000061.1:p.Phe525=
NM_024344.1:c.1574_1575delinsTC	NP_077320.1:p.Phe525=
NM_173087.1:c.1430_1431delinsTC	NP_775110.1:p.Phe477=
NM_173088.1:c.38_39delinsTC	NP_775111.1:p.Phe13=
NM_000070.3:c.1574_1575delinsTC MANE Select	NP_000061.1:p.Phe525=
NM_024344.2:c.1574_1575delinsTC	NP_077320.1:p.Phe525=
NM_173087.2:c.1430_1431delinsTC	NP_775110.1:p.Phe477=
NM_173088.2:c.38_39delinsTC	NP_775111.1:p.Phe13=