Canonical Allele Identifier: CA2172710351

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389103_42389105delinsCTG , CM000677.2:g.42389103_42389105delinsCTG	GRCh38
NC_000015.9:g.42681301_42681303delinsCTG , CM000677.1:g.42681301_42681303delinsCTG	GRCh37
NC_000015.8:g.40468593_40468595delinsCTG	NCBI36
NG_008660.1:g.46001_46003delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+7_801+9delinsCTG	ENSP00000183936.4:n.801+7_801+9delinsCTG
ENST00000357568.8:c.801+7_801+9delinsCTG	ENSP00000350181.3:n.801+7_801+9delinsCTG
ENST00000397163.8:c.801+7_801+9delinsCTG MANE Select	ENSP00000380349.3:n.801+7_801+9delinsCTG
ENST00000466369.5:n.1310+7_1310+9delinsCTG
ENST00000483208.5:n.1032+7_1032+9delinsCTG
ENST00000495723.1:n.1032+7_1032+9delinsCTG
ENST00000549793.5:n.1032+7_1032+9delinsCTG
ENST00000638141.2:n.816+7_816+9delinsCTG
ENST00000673705.1:c.70+4551_70+4553delinsCTG	ENSP00000501021.1:n.70+4551_70+4553delinsCTG
ENST00000318023.11:c.801+7_801+9delinsCTG	ENSP00000326281.8:n.801+7_801+9delinsCTG
ENST00000349748.7:c.801+7_801+9delinsCTG	ENSP00000183936.4:n.801+7_801+9delinsCTG
ENST00000357568.7:c.801+7_801+9delinsCTG	ENSP00000350181.3:n.801+7_801+9delinsCTG
ENST00000397163.7:c.801+7_801+9delinsCTG	ENSP00000380349.3:n.801+7_801+9delinsCTG
NM_000070.2:c.801+7_801+9delinsCTG	NP_000061.1:n.801+7_801+9delinsCTG
NM_024344.1:c.801+7_801+9delinsCTG	NP_077320.1:n.801+7_801+9delinsCTG
NM_173087.1:c.801+7_801+9delinsCTG	NP_775110.1:n.801+7_801+9delinsCTG
NM_000070.3:c.801+7_801+9delinsCTG MANE Select	NP_000061.1:n.801+7_801+9delinsCTG
NM_024344.2:c.801+7_801+9delinsCTG	NP_077320.1:n.801+7_801+9delinsCTG
NM_173087.2:c.801+7_801+9delinsCTG	NP_775110.1:n.801+7_801+9delinsCTG