Canonical Allele Identifier: CA2172714723

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402966_42402967delinsTC , CM000677.2:g.42402966_42402967delinsTC	GRCh38
NC_000015.9:g.42695164_42695165delinsTC , CM000677.1:g.42695164_42695165delinsTC	GRCh37
NC_000015.8:g.40482456_40482457delinsTC	NCBI36
NG_008660.1:g.59864_59865delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1565_1566delinsTC	ENSP00000183936.4:p.Ile522=
ENST00000357568.8:c.1709_1710delinsTC	ENSP00000350181.3:p.Ile570=
ENST00000397163.8:c.1709_1710delinsTC MANE Select	ENSP00000380349.3:p.Ile570=
ENST00000466369.5:n.2218_2219delinsTC
ENST00000483208.5:n.2598_2599delinsTC
ENST00000495723.1:n.2598_2599delinsTC
ENST00000549793.5:n.1940_1941delinsTC
ENST00000638141.2:n.1580_1581delinsTC
ENST00000673646.1:c.173_174delinsTC	ENSP00000501007.1:p.Ile58=
ENST00000673705.1:c.309+3314_309+3315delinsTC	ENSP00000501021.1:n.309+3314_309+3315delinsTC
ENST00000673813.1:n.580+51_580+52delinsTC
ENST00000318023.11:c.1565_1566delinsTC	ENSP00000326281.8:p.Ile522=
ENST00000349748.7:c.1565_1566delinsTC	ENSP00000183936.4:p.Ile522=
ENST00000357568.7:c.1709_1710delinsTC	ENSP00000350181.3:p.Ile570=
ENST00000397163.7:c.1709_1710delinsTC	ENSP00000380349.3:p.Ile570=
ENST00000397200.8:c.173_174delinsTC	ENSP00000380384.4:p.Ile58=
ENST00000567071.5:c.168_169delinsTC
ENST00000569827.5:c.173_174delinsTC	ENSP00000454379.1:p.Ile58=
NM_000070.2:c.1709_1710delinsTC	NP_000061.1:p.Ile570=
NM_024344.1:c.1709_1710delinsTC	NP_077320.1:p.Ile570=
NM_173087.1:c.1565_1566delinsTC	NP_775110.1:p.Ile522=
NM_173088.1:c.173_174delinsTC	NP_775111.1:p.Ile58=
NM_000070.3:c.1709_1710delinsTC MANE Select	NP_000061.1:p.Ile570=
NM_024344.2:c.1709_1710delinsTC	NP_077320.1:p.Ile570=
NM_173087.2:c.1565_1566delinsTC	NP_775110.1:p.Ile522=
NM_173088.2:c.173_174delinsTC	NP_775111.1:p.Ile58=