Canonical Allele Identifier: CA2172710323

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389050_42389053delinsTGAA , CM000677.2:g.42389050_42389053delinsTGAA	GRCh38
NC_000015.9:g.42681248_42681251delinsTGAA , CM000677.1:g.42681248_42681251delinsTGAA	GRCh37
NC_000015.8:g.40468540_40468543delinsTGAA	NCBI36
NG_008660.1:g.45948_45951delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.755_758delinsTGAA	ENSP00000183936.4:p.Met252=
ENST00000357568.8:c.755_758delinsTGAA	ENSP00000350181.3:p.Met252=
ENST00000397163.8:c.755_758delinsTGAA MANE Select	ENSP00000380349.3:p.Met252=
ENST00000466369.5:n.1264_1267delinsTGAA
ENST00000483208.5:n.986_989delinsTGAA
ENST00000495723.1:n.986_989delinsTGAA
ENST00000549793.5:n.986_989delinsTGAA
ENST00000638141.2:n.770_773delinsTGAA
ENST00000673705.1:c.70+4498_70+4501delinsTGAA	ENSP00000501021.1:n.70+4498_70+4501delinsTGAA
ENST00000318023.11:c.755_758delinsTGAA	ENSP00000326281.8:p.Met252=
ENST00000349748.7:c.755_758delinsTGAA	ENSP00000183936.4:p.Met252=
ENST00000357568.7:c.755_758delinsTGAA	ENSP00000350181.3:p.Met252=
ENST00000397163.7:c.755_758delinsTGAA	ENSP00000380349.3:p.Met252=
NM_000070.2:c.755_758delinsTGAA	NP_000061.1:p.Met252=
NM_024344.1:c.755_758delinsTGAA	NP_077320.1:p.Met252=
NM_173087.1:c.755_758delinsTGAA	NP_775110.1:p.Met252=
NM_000070.3:c.755_758delinsTGAA MANE Select	NP_000061.1:p.Met252=
NM_024344.2:c.755_758delinsTGAA	NP_077320.1:p.Met252=
NM_173087.2:c.755_758delinsTGAA	NP_775110.1:p.Met252=