Canonical Allele Identifier: CA912980520

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42681231_42681242del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389033_42389044del , CM000677.2:g.42389033_42389044del	GRCh38
NC_000015.9:g.42681231_42681242del , CM000677.1:g.42681231_42681242del	GRCh37
NC_000015.8:g.40468523_40468534del	NCBI36
NG_008660.1:g.45931_45942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.738_749del	ENSP00000183936.4:p.Ser246_Lys250delinsArg
ENST00000357568.8:c.738_749del	ENSP00000350181.3:p.Ser246_Lys250delinsArg
ENST00000397163.8:c.738_749del MANE Select	ENSP00000380349.3:p.Ser246_Lys250delinsArg
ENST00000466369.5:n.1247_1258del
ENST00000483208.5:n.969_980del
ENST00000495723.1:n.969_980del
ENST00000549793.5:n.969_980del
ENST00000638141.2:n.753_764del
ENST00000673705.1:c.70+4481_70+4492del	ENSP00000501021.1:n.70+4481_70+4492del
ENST00000318023.11:c.738_749del	ENSP00000326281.8:p.Ser246_Lys250delinsArg
ENST00000349748.7:c.738_749del	ENSP00000183936.4:p.Ser246_Lys250delinsArg
ENST00000357568.7:c.738_749del	ENSP00000350181.3:p.Ser246_Lys250delinsArg
ENST00000397163.7:c.738_749del	ENSP00000380349.3:p.Ser246_Lys250delinsArg
NM_000070.2:c.738_749del	NP_000061.1:p.Ser246_Lys250delinsArg
NM_024344.1:c.738_749del	NP_077320.1:p.Ser246_Lys250delinsArg
NM_173087.1:c.738_749del	NP_775110.1:p.Ser246_Lys250delinsArg
NM_000070.3:c.738_749del MANE Select	NP_000061.1:p.Ser246_Lys250delinsArg
NM_024344.2:c.738_749del	NP_077320.1:p.Ser246_Lys250delinsArg
NM_173087.2:c.738_749del	NP_775110.1:p.Ser246_Lys250delinsArg