Canonical Allele Identifier: CA2172710313

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389036_42389038delinsCAT , CM000677.2:g.42389036_42389038delinsCAT	GRCh38
NC_000015.9:g.42681234_42681236delinsCAT , CM000677.1:g.42681234_42681236delinsCAT	GRCh37
NC_000015.8:g.40468526_40468528delinsCAT	NCBI36
NG_008660.1:g.45934_45936delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.741_743delinsCAT	ENSP00000183936.4:p.Asp247=
ENST00000357568.8:c.741_743delinsCAT	ENSP00000350181.3:p.Asp247=
ENST00000397163.8:c.741_743delinsCAT MANE Select	ENSP00000380349.3:p.Asp247=
ENST00000466369.5:n.1250_1252delinsCAT
ENST00000483208.5:n.972_974delinsCAT
ENST00000495723.1:n.972_974delinsCAT
ENST00000549793.5:n.972_974delinsCAT
ENST00000638141.2:n.756_758delinsCAT
ENST00000673705.1:c.70+4484_70+4486delinsCAT	ENSP00000501021.1:n.70+4484_70+4486delinsCAT
ENST00000318023.11:c.741_743delinsCAT	ENSP00000326281.8:p.Asp247=
ENST00000349748.7:c.741_743delinsCAT	ENSP00000183936.4:p.Asp247=
ENST00000357568.7:c.741_743delinsCAT	ENSP00000350181.3:p.Asp247=
ENST00000397163.7:c.741_743delinsCAT	ENSP00000380349.3:p.Asp247=
NM_000070.2:c.741_743delinsCAT	NP_000061.1:p.Asp247=
NM_024344.1:c.741_743delinsCAT	NP_077320.1:p.Asp247=
NM_173087.1:c.741_743delinsCAT	NP_775110.1:p.Asp247=
NM_000070.3:c.741_743delinsCAT MANE Select	NP_000061.1:p.Asp247=
NM_024344.2:c.741_743delinsCAT	NP_077320.1:p.Asp247=
NM_173087.2:c.741_743delinsCAT	NP_775110.1:p.Asp247=