Canonical Allele Identifier: CA2172714760

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402978_42402979delinsTC , CM000677.2:g.42402978_42402979delinsTC	GRCh38
NC_000015.9:g.42695176_42695177delinsTC , CM000677.1:g.42695176_42695177delinsTC	GRCh37
NC_000015.8:g.40482468_40482469delinsTC	NCBI36
NG_008660.1:g.59876_59877delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1577_1578delinsTC	ENSP00000183936.4:p.Phe526=
ENST00000357568.8:c.1721_1722delinsTC	ENSP00000350181.3:p.Phe574=
ENST00000397163.8:c.1721_1722delinsTC MANE Select	ENSP00000380349.3:p.Phe574=
ENST00000466369.5:n.2230_2231delinsTC
ENST00000483208.5:n.2610_2611delinsTC
ENST00000495723.1:n.2610_2611delinsTC
ENST00000549793.5:n.1952_1953delinsTC
ENST00000638141.2:n.1592_1593delinsTC
ENST00000673646.1:c.185_186delinsTC	ENSP00000501007.1:p.Phe62=
ENST00000673705.1:c.309+3326_309+3327delinsTC	ENSP00000501021.1:n.309+3326_309+3327delinsTC
ENST00000673813.1:n.580+63_580+64delinsTC
ENST00000318023.11:c.1577_1578delinsTC	ENSP00000326281.8:p.Phe526=
ENST00000349748.7:c.1577_1578delinsTC	ENSP00000183936.4:p.Phe526=
ENST00000357568.7:c.1721_1722delinsTC	ENSP00000350181.3:p.Phe574=
ENST00000397163.7:c.1721_1722delinsTC	ENSP00000380349.3:p.Phe574=
ENST00000397200.8:c.185_186delinsTC	ENSP00000380384.4:p.Phe62=
ENST00000567071.5:c.180_181delinsTC
ENST00000569827.5:c.185_186delinsTC	ENSP00000454379.1:p.Phe62=
NM_000070.2:c.1721_1722delinsTC	NP_000061.1:p.Phe574=
NM_024344.1:c.1721_1722delinsTC	NP_077320.1:p.Phe574=
NM_173087.1:c.1577_1578delinsTC	NP_775110.1:p.Phe526=
NM_173088.1:c.185_186delinsTC	NP_775111.1:p.Phe62=
NM_000070.3:c.1721_1722delinsTC MANE Select	NP_000061.1:p.Phe574=
NM_024344.2:c.1721_1722delinsTC	NP_077320.1:p.Phe574=
NM_173087.2:c.1577_1578delinsTC	NP_775110.1:p.Phe526=
NM_173088.2:c.185_186delinsTC	NP_775111.1:p.Phe62=