Canonical Allele Identifier: CA1044051884

Gene: CAPN10

Linked Data

• gnomAD v3: 2-240594824-A-AGAGGATTCTGTCCCAGGAGCCGGGAGGAGGGT
• gnomAD v4: 2-240594824-A-AGAGGATTCTGTCCCAGGAGCCGGGAGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240594826_240594827insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA , CM000664.2:g.240594826_240594827insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	GRCh38
NC_000002.11:g.241534243_241534244insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA , CM000664.1:g.241534243_241534244insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	GRCh37
NC_000002.10:g.241182916_241182917insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	NCBI36
NG_011558.2:g.13111_13112insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000391984.7:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA MANE Select	ENSP00000375844.2:n.997+117_997+118insGGA...
ENST00000270361.15:c.*161+117_*161+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	ENSP00000270361.11:n.*161+117_*161+118ins...
ENST00000270364.11:c.273+5352_273+5353insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	ENSP00000270364.7:n.273+5352_273+5353insG...
ENST00000352879.8:c.142-3062_142-3061insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	ENSP00000289381.6:n.142-3062_142-3061insG...
ENST00000354082.8:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	ENSP00000270362.6:n.997+117_997+118insGGA...
ENST00000357048.8:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	ENSP00000349556.4:n.997+117_997+118insGGA...
ENST00000391983.7:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	ENSP00000375843.3:n.997+117_997+118insGGA...
ENST00000391984.6:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	ENSP00000375844.2:n.997+117_997+118insGGA...
ENST00000404753.7:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	ENSP00000384422.3:n.997+117_997+118insGGA...
ENST00000416591.5:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	ENSP00000400144.1:n.997+117_997+118insGGA...
ENST00000465943.1:n.469+117_469+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA
ENST00000494738.5:n.2576+117_2576+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA
NM_023083.3:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	NP_075571.1:n.997+117_997+118insGGATTCTGT...
NM_023085.3:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	NP_075573.2:n.997+117_997+118insGGATTCTGT...
NM_023083.4:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA MANE Select	NP_075571.2:n.997+117_997+118insGGATTCTGT...
NM_023085.4:c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA	NP_075573.3:n.997+117_997+118insGGATTCTGT...