Canonical Allele Identifier: CA1044051891

Gene: CAPN10

Linked Data

• dbSNP Id: rs2093125803
• gnomAD v3: 2-240594824-A-AGATGATTATGTCCCAGGAGCCGGGAGGAGGGT
• gnomAD v4: 2-240594824-A-AGATGATTATGTCCCAGGAGCCGGGAGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240594831_240594832insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT , CM000664.2:g.240594831_240594832insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	GRCh38
NC_000002.11:g.241534248_241534249insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT , CM000664.1:g.241534248_241534249insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	GRCh37
NC_000002.10:g.241182921_241182922insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	NCBI36
NG_011558.2:g.13116_13117insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000391984.7:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT MANE Select	ENSP00000375844.2:n.997+122_997+123insATG...
ENST00000270361.15:c.*161+122_*161+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	ENSP00000270361.11:n.*161+122_*161+123ins...
ENST00000270364.11:c.273+5357_273+5358insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	ENSP00000270364.7:n.273+5357_273+5358insA...
ENST00000352879.8:c.142-3057_142-3056insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	ENSP00000289381.6:n.142-3057_142-3056insA...
ENST00000354082.8:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	ENSP00000270362.6:n.997+122_997+123insATG...
ENST00000357048.8:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	ENSP00000349556.4:n.997+122_997+123insATG...
ENST00000391983.7:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	ENSP00000375843.3:n.997+122_997+123insATG...
ENST00000391984.6:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	ENSP00000375844.2:n.997+122_997+123insATG...
ENST00000404753.7:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	ENSP00000384422.3:n.997+122_997+123insATG...
ENST00000416591.5:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	ENSP00000400144.1:n.997+122_997+123insATG...
ENST00000465943.1:n.469+122_469+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT
ENST00000494738.5:n.2576+122_2576+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT
NM_023083.3:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	NP_075571.1:n.997+122_997+123insATGTCCCAG...
NM_023085.3:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	NP_075573.2:n.997+122_997+123insATGTCCCAG...
NM_023083.4:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT MANE Select	NP_075571.2:n.997+122_997+123insATGTCCCAG...
NM_023085.4:c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT	NP_075573.3:n.997+122_997+123insATGTCCCAG...