Canonical Allele Identifier: CA2172718998

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401680_42401683delinsTGGA , CM000677.2:g.42401680_42401683delinsTGGA	GRCh38
NC_000015.9:g.42693878_42693881delinsTGGA , CM000677.1:g.42693878_42693881delinsTGGA	GRCh37
NC_000015.8:g.40481170_40481173delinsTGGA	NCBI36
NG_008660.1:g.58578_58581delinsTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1250_1253delinsTGGA	ENSP00000183936.4:p.Leu417=
ENST00000357568.8:c.1394_1397delinsTGGA	ENSP00000350181.3:p.Leu465=
ENST00000397163.8:c.1394_1397delinsTGGA MANE Select	ENSP00000380349.3:p.Leu465=
ENST00000466369.5:n.1903_1906delinsTGGA
ENST00000483208.5:n.1625_1628delinsTGGA
ENST00000495723.1:n.1625_1628delinsTGGA
ENST00000549793.5:n.1625_1628delinsTGGA
ENST00000638141.2:n.1265_1268delinsTGGA
ENST00000673705.1:c.309+2028_309+2031delinsTGGA	ENSP00000501021.1:n.309+2028_309+2031delinsTGGA
ENST00000318023.11:c.1250_1253delinsTGGA	ENSP00000326281.8:p.Leu417=
ENST00000349748.7:c.1250_1253delinsTGGA	ENSP00000183936.4:p.Leu417=
ENST00000357568.7:c.1394_1397delinsTGGA	ENSP00000350181.3:p.Leu465=
ENST00000397163.7:c.1394_1397delinsTGGA	ENSP00000380349.3:p.Leu465=
NM_000070.2:c.1394_1397delinsTGGA	NP_000061.1:p.Leu465=
NM_024344.1:c.1394_1397delinsTGGA	NP_077320.1:p.Leu465=
NM_173087.1:c.1250_1253delinsTGGA	NP_775110.1:p.Leu417=
NM_000070.3:c.1394_1397delinsTGGA MANE Select	NP_000061.1:p.Leu465=
NM_024344.2:c.1394_1397delinsTGGA	NP_077320.1:p.Leu465=
NM_173087.2:c.1250_1253delinsTGGA	NP_775110.1:p.Leu417=