Canonical Allele Identifier: CA2172710288

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388994_42388995delinsAG , CM000677.2:g.42388994_42388995delinsAG	GRCh38
NC_000015.9:g.42681192_42681193delinsAG , CM000677.1:g.42681192_42681193delinsAG	GRCh37
NC_000015.8:g.40468484_40468485delinsAG	NCBI36
NG_008660.1:g.45892_45893delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.699_700delinsAG	ENSP00000183936.4:p.Gly233=
ENST00000357568.8:c.699_700delinsAG	ENSP00000350181.3:p.Gly233=
ENST00000397163.8:c.699_700delinsAG MANE Select	ENSP00000380349.3:p.Gly233=
ENST00000466369.5:n.1208_1209delinsAG
ENST00000483208.5:n.930_931delinsAG
ENST00000495723.1:n.930_931delinsAG
ENST00000549793.5:n.930_931delinsAG
ENST00000638141.2:n.714_715delinsAG
ENST00000673705.1:c.70+4442_70+4443delinsAG	ENSP00000501021.1:n.70+4442_70+4443delinsAG
ENST00000318023.11:c.699_700delinsAG	ENSP00000326281.8:p.Gly233=
ENST00000349748.7:c.699_700delinsAG	ENSP00000183936.4:p.Gly233=
ENST00000357568.7:c.699_700delinsAG	ENSP00000350181.3:p.Gly233=
ENST00000397163.7:c.699_700delinsAG	ENSP00000380349.3:p.Gly233=
NM_000070.2:c.699_700delinsAG	NP_000061.1:p.Gly233=
NM_024344.1:c.699_700delinsAG	NP_077320.1:p.Gly233=
NM_173087.1:c.699_700delinsAG	NP_775110.1:p.Gly233=
NM_000070.3:c.699_700delinsAG MANE Select	NP_000061.1:p.Gly233=
NM_024344.2:c.699_700delinsAG	NP_077320.1:p.Gly233=
NM_173087.2:c.699_700delinsAG	NP_775110.1:p.Gly233=