Canonical Allele Identifier: CA2172697486

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360155_42360157delinsGGA , CM000677.2:g.42360155_42360157delinsGGA	GRCh38
NC_000015.9:g.42652353_42652355delinsGGA , CM000677.1:g.42652353_42652355delinsGGA	GRCh37
NC_000015.8:g.40439645_40439647delinsGGA	NCBI36
NG_008660.1:g.17053_17055delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.309+41_309+43delinsGGA	ENSP00000183936.4:n.309+41_309+43delinsGGA
ENST00000357568.8:c.309+41_309+43delinsGGA	ENSP00000350181.3:n.309+41_309+43delinsGGA
ENST00000397163.8:c.309+41_309+43delinsGGA MANE Select	ENSP00000380349.3:n.309+41_309+43delinsGGA
ENST00000466369.5:n.540+5702_540+5704delinsGGA
ENST00000483208.5:n.540+5702_540+5704delinsGGA
ENST00000495723.1:n.540+5702_540+5704delinsGGA
ENST00000549793.5:n.540+5702_540+5704delinsGGA
ENST00000318023.11:c.309+41_309+43delinsGGA	ENSP00000326281.8:n.309+41_309+43delinsGGA
ENST00000349748.7:c.309+41_309+43delinsGGA	ENSP00000183936.4:n.309+41_309+43delinsGGA
ENST00000357568.7:c.309+41_309+43delinsGGA	ENSP00000350181.3:n.309+41_309+43delinsGGA
ENST00000397163.7:c.309+41_309+43delinsGGA	ENSP00000380349.3:n.309+41_309+43delinsGGA
NM_000070.2:c.309+41_309+43delinsGGA	NP_000061.1:n.309+41_309+43delinsGGA
NM_024344.1:c.309+41_309+43delinsGGA	NP_077320.1:n.309+41_309+43delinsGGA
NM_173087.1:c.309+41_309+43delinsGGA	NP_775110.1:n.309+41_309+43delinsGGA
NM_000070.3:c.309+41_309+43delinsGGA MANE Select	NP_000061.1:n.309+41_309+43delinsGGA
NM_024344.2:c.309+41_309+43delinsGGA	NP_077320.1:n.309+41_309+43delinsGGA
NM_173087.2:c.309+41_309+43delinsGGA	NP_775110.1:n.309+41_309+43delinsGGA