Canonical Allele Identifier: CA2575695395

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42389024-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389025del , CM000677.2:g.42389025del	GRCh38
NC_000015.9:g.42681223del , CM000677.1:g.42681223del	GRCh37
NC_000015.8:g.40468515del	NCBI36
NG_008660.1:g.45923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.730del	ENSP00000183936.4:p.Ala244LeufsTer9
ENST00000357568.8:c.730del	ENSP00000350181.3:p.Ala244LeufsTer9
ENST00000397163.8:c.730del MANE Select	ENSP00000380349.3:p.Ala244LeufsTer9
ENST00000466369.5:n.1239del
ENST00000483208.5:n.961del
ENST00000495723.1:n.961del
ENST00000549793.5:n.961del
ENST00000638141.2:n.745del
ENST00000673705.1:c.70+4473del	ENSP00000501021.1:n.70+4473del
ENST00000318023.11:c.730del	ENSP00000326281.8:p.Ala244LeufsTer9
ENST00000349748.7:c.730del	ENSP00000183936.4:p.Ala244LeufsTer9
ENST00000357568.7:c.730del	ENSP00000350181.3:p.Ala244LeufsTer9
ENST00000397163.7:c.730del	ENSP00000380349.3:p.Ala244LeufsTer9
NM_000070.2:c.730del	NP_000061.1:p.Ala244LeufsTer9
NM_024344.1:c.730del	NP_077320.1:p.Ala244LeufsTer9
NM_173087.1:c.730del	NP_775110.1:p.Ala244LeufsTer9
NM_000070.3:c.730del MANE Select	NP_000061.1:p.Ala244LeufsTer9
NM_024344.2:c.730del	NP_077320.1:p.Ala244LeufsTer9
NM_173087.2:c.730del	NP_775110.1:p.Ala244LeufsTer9