Canonical Allele Identifier: CA2172710415

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389232_42389233delinsCT , CM000677.2:g.42389232_42389233delinsCT	GRCh38
NC_000015.9:g.42681430_42681431delinsCT , CM000677.1:g.42681430_42681431delinsCT	GRCh37
NC_000015.8:g.40468722_40468723delinsCT	NCBI36
NG_008660.1:g.46130_46131delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+136_801+137delinsCT	ENSP00000183936.4:n.801+136_801+137delinsCT
ENST00000357568.8:c.801+136_801+137delinsCT	ENSP00000350181.3:n.801+136_801+137delinsCT
ENST00000397163.8:c.801+136_801+137delinsCT MANE Select	ENSP00000380349.3:n.801+136_801+137delinsCT
ENST00000466369.5:n.1310+136_1310+137delinsCT
ENST00000483208.5:n.1032+136_1032+137delinsCT
ENST00000495723.1:n.1032+136_1032+137delinsCT
ENST00000549793.5:n.1032+136_1032+137delinsCT
ENST00000638141.2:n.816+136_816+137delinsCT
ENST00000673705.1:c.70+4680_70+4681delinsCT	ENSP00000501021.1:n.70+4680_70+4681delinsCT
ENST00000318023.11:c.801+136_801+137delinsCT	ENSP00000326281.8:n.801+136_801+137delinsCT
ENST00000349748.7:c.801+136_801+137delinsCT	ENSP00000183936.4:n.801+136_801+137delinsCT
ENST00000357568.7:c.801+136_801+137delinsCT	ENSP00000350181.3:n.801+136_801+137delinsCT
ENST00000397163.7:c.801+136_801+137delinsCT	ENSP00000380349.3:n.801+136_801+137delinsCT
NM_000070.2:c.801+136_801+137delinsCT	NP_000061.1:n.801+136_801+137delinsCT
NM_024344.1:c.801+136_801+137delinsCT	NP_077320.1:n.801+136_801+137delinsCT
NM_173087.1:c.801+136_801+137delinsCT	NP_775110.1:n.801+136_801+137delinsCT
NM_000070.3:c.801+136_801+137delinsCT MANE Select	NP_000061.1:n.801+136_801+137delinsCT
NM_024344.2:c.801+136_801+137delinsCT	NP_077320.1:n.801+136_801+137delinsCT
NM_173087.2:c.801+136_801+137delinsCT	NP_775110.1:n.801+136_801+137delinsCT