Canonical Allele Identifier: CA2172710239

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388889_42388891delinsACT , CM000677.2:g.42388889_42388891delinsACT	GRCh38
NC_000015.9:g.42681087_42681089delinsACT , CM000677.1:g.42681087_42681089delinsACT	GRCh37
NC_000015.8:g.40468379_40468381delinsACT	NCBI36
NG_008660.1:g.45787_45789delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.633-39_633-37delinsACT	ENSP00000183936.4:n.633-39_633-37delinsACT
ENST00000357568.8:c.633-39_633-37delinsACT	ENSP00000350181.3:n.633-39_633-37delinsACT
ENST00000397163.8:c.633-39_633-37delinsACT MANE Select	ENSP00000380349.3:n.633-39_633-37delinsACT
ENST00000466369.5:n.1142-39_1142-37delinsACT
ENST00000483208.5:n.864-39_864-37delinsACT
ENST00000495723.1:n.864-39_864-37delinsACT
ENST00000549793.5:n.864-39_864-37delinsACT
ENST00000638141.2:n.648-39_648-37delinsACT
ENST00000673705.1:c.70+4337_70+4339delinsACT	ENSP00000501021.1:n.70+4337_70+4339delinsACT
ENST00000318023.11:c.633-39_633-37delinsACT	ENSP00000326281.8:n.633-39_633-37delinsACT
ENST00000349748.7:c.633-39_633-37delinsACT	ENSP00000183936.4:n.633-39_633-37delinsACT
ENST00000357568.7:c.633-39_633-37delinsACT	ENSP00000350181.3:n.633-39_633-37delinsACT
ENST00000397163.7:c.633-39_633-37delinsACT	ENSP00000380349.3:n.633-39_633-37delinsACT
NM_000070.2:c.633-39_633-37delinsACT	NP_000061.1:n.633-39_633-37delinsACT
NM_024344.1:c.633-39_633-37delinsACT	NP_077320.1:n.633-39_633-37delinsACT
NM_173087.1:c.633-39_633-37delinsACT	NP_775110.1:n.633-39_633-37delinsACT
NM_000070.3:c.633-39_633-37delinsACT MANE Select	NP_000061.1:n.633-39_633-37delinsACT
NM_024344.2:c.633-39_633-37delinsACT	NP_077320.1:n.633-39_633-37delinsACT
NM_173087.2:c.633-39_633-37delinsACT	NP_775110.1:n.633-39_633-37delinsACT