Canonical Allele Identifier: CA2172712023

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392580_42392581delinsCA , CM000677.2:g.42392580_42392581delinsCA	GRCh38
NC_000015.9:g.42684778_42684779delinsCA , CM000677.1:g.42684778_42684779delinsCA	GRCh37
NC_000015.8:g.40472070_40472071delinsCA	NCBI36
NG_008660.1:g.49478_49479delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.802-59_802-58delinsCA	ENSP00000183936.4:n.802-59_802-58delinsCA...
ENST00000357568.8:c.946-59_946-58delinsCA	ENSP00000350181.3:n.946-59_946-58delinsCA...
ENST00000397163.8:c.946-59_946-58delinsCA MANE Select	ENSP00000380349.3:n.946-59_946-58delinsCA...
ENST00000466369.5:n.1455-59_1455-58delinsCA
ENST00000483208.5:n.1177-59_1177-58delinsCA
ENST00000495723.1:n.1177-59_1177-58delinsCA
ENST00000549793.5:n.1177-59_1177-58delinsCA
ENST00000638141.2:n.817-59_817-58delinsCA
ENST00000673705.1:c.71-4220_71-4219delinsCA	ENSP00000501021.1:n.71-4220_71-4219delins...
ENST00000318023.11:c.802-59_802-58delinsCA	ENSP00000326281.8:n.802-59_802-58delinsCA...
ENST00000349748.7:c.802-59_802-58delinsCA	ENSP00000183936.4:n.802-59_802-58delinsCA...
ENST00000357568.7:c.946-59_946-58delinsCA	ENSP00000350181.3:n.946-59_946-58delinsCA...
ENST00000397163.7:c.946-59_946-58delinsCA	ENSP00000380349.3:n.946-59_946-58delinsCA...
NM_000070.2:c.946-59_946-58delinsCA	NP_000061.1:n.946-59_946-58delinsCA
NM_024344.1:c.946-59_946-58delinsCA	NP_077320.1:n.946-59_946-58delinsCA
NM_173087.1:c.802-59_802-58delinsCA	NP_775110.1:n.802-59_802-58delinsCA
NM_000070.3:c.946-59_946-58delinsCA MANE Select	NP_000061.1:n.946-59_946-58delinsCA
NM_024344.2:c.946-59_946-58delinsCA	NP_077320.1:n.946-59_946-58delinsCA
NM_173087.2:c.802-59_802-58delinsCA	NP_775110.1:n.802-59_802-58delinsCA