Canonical Allele Identifier: CA2172710301

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389019_42389020delinsAG , CM000677.2:g.42389019_42389020delinsAG	GRCh38
NC_000015.9:g.42681217_42681218delinsAG , CM000677.1:g.42681217_42681218delinsAG	GRCh37
NC_000015.8:g.40468509_40468510delinsAG	NCBI36
NG_008660.1:g.45917_45918delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.724_725delinsAG	ENSP00000183936.4:p.Arg242=
ENST00000357568.8:c.724_725delinsAG	ENSP00000350181.3:p.Arg242=
ENST00000397163.8:c.724_725delinsAG MANE Select	ENSP00000380349.3:p.Arg242=
ENST00000466369.5:n.1233_1234delinsAG
ENST00000483208.5:n.955_956delinsAG
ENST00000495723.1:n.955_956delinsAG
ENST00000549793.5:n.955_956delinsAG
ENST00000638141.2:n.739_740delinsAG
ENST00000673705.1:c.70+4467_70+4468delinsAG	ENSP00000501021.1:n.70+4467_70+4468delinsAG
ENST00000318023.11:c.724_725delinsAG	ENSP00000326281.8:p.Arg242=
ENST00000349748.7:c.724_725delinsAG	ENSP00000183936.4:p.Arg242=
ENST00000357568.7:c.724_725delinsAG	ENSP00000350181.3:p.Arg242=
ENST00000397163.7:c.724_725delinsAG	ENSP00000380349.3:p.Arg242=
NM_000070.2:c.724_725delinsAG	NP_000061.1:p.Arg242=
NM_024344.1:c.724_725delinsAG	NP_077320.1:p.Arg242=
NM_173087.1:c.724_725delinsAG	NP_775110.1:p.Arg242=
NM_000070.3:c.724_725delinsAG MANE Select	NP_000061.1:p.Arg242=
NM_024344.2:c.724_725delinsAG	NP_077320.1:p.Arg242=
NM_173087.2:c.724_725delinsAG	NP_775110.1:p.Arg242=