Canonical Allele Identifier: CA2803911555

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402949_42402950insA , CM000677.2:g.42402949_42402950insA	GRCh38
NC_000015.9:g.42695147_42695148insA , CM000677.1:g.42695147_42695148insA	GRCh37
NC_000015.8:g.40482439_40482440insA	NCBI36
NG_008660.1:g.59847_59848insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1548_1549insA	ENSP00000183936.4:p.Gln517ThrfsTer12
ENST00000357568.8:c.1692_1693insA	ENSP00000350181.3:p.Gln565ThrfsTer12
ENST00000397163.8:c.1692_1693insA MANE Select	ENSP00000380349.3:p.Gln565ThrfsTer12
ENST00000466369.5:n.2201_2202insA
ENST00000483208.5:n.2581_2582insA
ENST00000495723.1:n.2581_2582insA
ENST00000549793.5:n.1923_1924insA
ENST00000638141.2:n.1563_1564insA
ENST00000673646.1:c.156_157insA	ENSP00000501007.1:p.Gln53ThrfsTer12
ENST00000673705.1:c.309+3297_309+3298insA	ENSP00000501021.1:n.309+3297_309+3298insA
ENST00000673813.1:n.580+34_580+35insA
ENST00000318023.11:c.1548_1549insA	ENSP00000326281.8:p.Gln517ThrfsTer12
ENST00000349748.7:c.1548_1549insA	ENSP00000183936.4:p.Gln517ThrfsTer12
ENST00000357568.7:c.1692_1693insA	ENSP00000350181.3:p.Gln565ThrfsTer12
ENST00000397163.7:c.1692_1693insA	ENSP00000380349.3:p.Gln565ThrfsTer12
ENST00000397200.8:c.156_157insA	ENSP00000380384.4:p.Gln53ThrfsTer12
ENST00000567071.5:c.151_152insA
ENST00000569827.5:c.156_157insA	ENSP00000454379.1:p.Gln53ThrfsTer12
NM_000070.2:c.1692_1693insA	NP_000061.1:p.Gln565ThrfsTer12
NM_024344.1:c.1692_1693insA	NP_077320.1:p.Gln565ThrfsTer12
NM_173087.1:c.1548_1549insA	NP_775110.1:p.Gln517ThrfsTer12
NM_173088.1:c.156_157insA	NP_775111.1:p.Gln53ThrfsTer12
NM_000070.3:c.1692_1693insA MANE Select	NP_000061.1:p.Gln565ThrfsTer12
NM_024344.2:c.1692_1693insA	NP_077320.1:p.Gln565ThrfsTer12
NM_173087.2:c.1548_1549insA	NP_775110.1:p.Gln517ThrfsTer12
NM_173088.2:c.156_157insA	NP_775111.1:p.Gln53ThrfsTer12