Canonical Allele Identifier: CA2172710263

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388934_42388955delinsTGGTTCCTACGAAGCTCTGAAA , CM000677.2:g.42388934_42388955delinsTGGTTCCTACGAAGCTCTGAAA	GRCh38
NC_000015.9:g.42681132_42681153delinsTGGTTCCTACGAAGCTCTGAAA , CM000677.1:g.42681132_42681153delinsTGGTTCCTACGAAGCTCTGAAA	GRCh37
NC_000015.8:g.40468424_40468445delinsTGGTTCCTACGAAGCTCTGAAA	NCBI36
NG_008660.1:g.45832_45853delinsTGGTTCCTACGAAGCTCTGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	ENSP00000183936.4:p.His213=
ENST00000357568.8:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	ENSP00000350181.3:p.His213=
ENST00000397163.8:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA MANE Select	ENSP00000380349.3:p.His213=
ENST00000466369.5:n.1148_1169delinsTGGTTCCTACGAAGCTCTGAAA
ENST00000483208.5:n.870_891delinsTGGTTCCTACGAAGCTCTGAAA
ENST00000495723.1:n.870_891delinsTGGTTCCTACGAAGCTCTGAAA
ENST00000549793.5:n.870_891delinsTGGTTCCTACGAAGCTCTGAAA
ENST00000638141.2:n.654_675delinsTGGTTCCTACGAAGCTCTGAAA
ENST00000673705.1:c.70+4382_70+4403delinsTGGTTCCTACGAAGCTCTGAAA	ENSP00000501021.1:n.70+4382_70+4403delinsTGGTTCCTACGAAGCTCTGA...
ENST00000318023.11:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	ENSP00000326281.8:p.His213=
ENST00000349748.7:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	ENSP00000183936.4:p.His213=
ENST00000357568.7:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	ENSP00000350181.3:p.His213=
ENST00000397163.7:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	ENSP00000380349.3:p.His213=
NM_000070.2:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	NP_000061.1:p.His213=
NM_024344.1:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	NP_077320.1:p.His213=
NM_173087.1:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	NP_775110.1:p.His213=
NM_000070.3:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA MANE Select	NP_000061.1:p.His213=
NM_024344.2:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	NP_077320.1:p.His213=
NM_173087.2:c.639_660delinsTGGTTCCTACGAAGCTCTGAAA	NP_775110.1:p.His213=