Canonical Allele Identifier: CA2172720426

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409944_42409946delinsGAC , CM000677.2:g.42409944_42409946delinsGAC	GRCh38
NC_000015.9:g.42702142_42702144delinsGAC , CM000677.1:g.42702142_42702144delinsGAC	GRCh37
NC_000015.8:g.40489434_40489436delinsGAC	NCBI36
NG_008660.1:g.66842_66844delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.69_71delinsGAC	ENSP00000336840.4:p.Lys23=
ENST00000349748.8:c.1788_1790delinsGAC	ENSP00000183936.4:p.Lys596=
ENST00000357568.8:c.2046_2048delinsGAC	ENSP00000350181.3:p.Lys682=
ENST00000397163.8:c.2064_2066delinsGAC MANE Select	ENSP00000380349.3:p.Lys688=
ENST00000397204.9:c.69_71delinsGAC	ENSP00000380387.4:p.Lys23=
ENST00000466222.7:n.329_331delinsGAC
ENST00000466369.5:n.2555_2557delinsGAC
ENST00000495723.1:n.2935_2937delinsGAC
ENST00000549793.5:n.2277_2279delinsGAC
ENST00000562199.2:c.72_74delinsGAC	ENSP00000501034.1:p.Lys24=
ENST00000569136.6:c.69_71delinsGAC	ENSP00000455254.1:p.Lys23=
ENST00000638141.2:n.1803_1805delinsGAC
ENST00000673646.1:c.628_630delinsGAC	ENSP00000501007.1:n.628_630delinsGAC
ENST00000673687.1:n.141_143delinsGAC
ENST00000673692.1:c.69_71delinsGAC	ENSP00000501138.1:p.Lys23=
ENST00000673705.1:c.459_461delinsGAC	ENSP00000501021.1:n.459_461delinsGAC
ENST00000673743.1:c.-34_-32delinsGAC	ENSP00000500989.1:n.-34_-32delinsGAC
ENST00000673750.1:c.69_71delinsGAC	ENSP00000501173.1:p.Lys23=
ENST00000673771.1:c.69_71delinsGAC	ENSP00000501023.1:p.Lys23=
ENST00000673774.1:n.765_767delinsGAC
ENST00000673839.1:c.69_71delinsGAC	ENSP00000501188.1:p.Lys23=
ENST00000673851.1:c.69_71delinsGAC	ENSP00000501142.1:p.Lys23=
ENST00000673854.1:n.5486_5488delinsGAC
ENST00000673886.1:c.69_71delinsGAC	ENSP00000501155.1:p.Lys23=
ENST00000673890.1:c.69_71delinsGAC	ENSP00000501293.1:p.Lys23=
ENST00000673928.1:c.69_71delinsGAC	ENSP00000501099.1:p.Lys23=
ENST00000673936.1:c.69_71delinsGAC	ENSP00000501189.1:p.Lys23=
ENST00000673939.1:c.69_71delinsGAC	ENSP00000501129.1:p.Lys23=
ENST00000673950.1:n.338_340delinsGAC
ENST00000673978.1:c.207_209delinsGAC	ENSP00000500976.1:p.Lys69=
ENST00000673987.1:c.69_71delinsGAC	ENSP00000501231.1:p.Lys23=
ENST00000674011.1:c.69_71delinsGAC	ENSP00000501171.1:p.Lys23=
ENST00000674018.1:c.69_71delinsGAC	ENSP00000501271.1:p.Lys23=
ENST00000674027.1:n.124_126delinsGAC
ENST00000674041.1:c.69_71delinsGAC	ENSP00000500956.1:p.Lys23=
ENST00000674052.1:c.288_290delinsGAC	ENSP00000501057.1:p.Lys96=
ENST00000674093.1:c.69_71delinsGAC	ENSP00000501303.1:p.Lys23=
ENST00000674119.1:c.69_71delinsGAC	ENSP00000501217.1:p.Lys23=
ENST00000674130.1:n.282_284delinsGAC
ENST00000674135.1:c.246_248delinsGAC	ENSP00000501178.1:p.Lys82=
ENST00000674139.1:c.69_71delinsGAC	ENSP00000501054.1:p.Lys23=
ENST00000674146.1:c.69_71delinsGAC	ENSP00000501175.1:p.Lys23=
ENST00000674149.1:c.69_71delinsGAC	ENSP00000501112.1:p.Lys23=
ENST00000318023.11:c.1920_1922delinsGAC	ENSP00000326281.8:p.Lys640=
ENST00000337571.8:c.69_71delinsGAC	ENSP00000336840.4:p.Lys23=
ENST00000349748.7:c.1788_1790delinsGAC	ENSP00000183936.4:p.Lys596=
ENST00000356316.7:c.69_71delinsGAC	ENSP00000348667.4:p.Lys23=
ENST00000357568.7:c.2046_2048delinsGAC	ENSP00000350181.3:p.Lys682=
ENST00000397163.7:c.2064_2066delinsGAC	ENSP00000380349.3:p.Lys688=
ENST00000397200.8:c.528_530delinsGAC	ENSP00000380384.4:p.Lys176=
ENST00000397204.8:c.69_71delinsGAC	ENSP00000380387.4:p.Lys23=
ENST00000466222.6:n.987_989delinsGAC
ENST00000561817.5:c.69_71delinsGAC	ENSP00000456575.1:p.Lys23=
ENST00000562199.1:n.72_74delinsGAC
ENST00000564503.5:c.161_163delinsGAC
ENST00000565274.5:c.276_278delinsGAC	ENSP00000457759.1:p.Lys92=
ENST00000565559.5:c.246_248delinsGAC	ENSP00000457878.1:p.Lys82=
ENST00000567071.5:c.544_546delinsGAC
ENST00000569136.5:c.69_71delinsGAC	ENSP00000455254.1:p.Lys23=
ENST00000569827.5:c.396_398delinsGAC	ENSP00000454379.1:p.Lys132=
NM_000070.2:c.2064_2066delinsGAC	NP_000061.1:p.Lys688=
NM_024344.1:c.2046_2048delinsGAC	NP_077320.1:p.Lys682=
NM_173087.1:c.1788_1790delinsGAC	NP_775110.1:p.Lys596=
NM_173088.1:c.528_530delinsGAC	NP_775111.1:p.Lys176=
NM_173089.1:c.69_71delinsGAC	NP_775112.1:p.Lys23=
NM_173090.1:c.69_71delinsGAC	NP_775113.1:p.Lys23=
NM_000070.3:c.2064_2066delinsGAC MANE Select	NP_000061.1:p.Lys688=
NM_024344.2:c.2046_2048delinsGAC	NP_077320.1:p.Lys682=
NM_173087.2:c.1788_1790delinsGAC	NP_775110.1:p.Lys596=
NM_173088.2:c.528_530delinsGAC	NP_775111.1:p.Lys176=
NM_173089.2:c.69_71delinsGAC	NP_775112.1:p.Lys23=
NM_173090.2:c.69_71delinsGAC	NP_775113.1:p.Lys23=