Canonical Allele Identifier: CA1044051890

Gene: CAPN10

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240594830_240594831insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT , CM000664.2:g.240594830_240594831insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	GRCh38
NC_000002.11:g.241534247_241534248insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT , CM000664.1:g.241534247_241534248insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	GRCh37
NC_000002.10:g.241182920_241182921insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	NCBI36
NG_011558.2:g.13115_13116insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000391984.7:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT MANE Select	ENSP00000375844.2:n.997+121_997+122insGCT...
ENST00000270361.15:c.*161+121_*161+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	ENSP00000270361.11:n.*161+121_*161+122ins...
ENST00000270364.11:c.273+5356_273+5357insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	ENSP00000270364.7:n.273+5356_273+5357insG...
ENST00000352879.8:c.142-3058_142-3057insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	ENSP00000289381.6:n.142-3058_142-3057insG...
ENST00000354082.8:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	ENSP00000270362.6:n.997+121_997+122insGCT...
ENST00000357048.8:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	ENSP00000349556.4:n.997+121_997+122insGCT...
ENST00000391983.7:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	ENSP00000375843.3:n.997+121_997+122insGCT...
ENST00000391984.6:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	ENSP00000375844.2:n.997+121_997+122insGCT...
ENST00000404753.7:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	ENSP00000384422.3:n.997+121_997+122insGCT...
ENST00000416591.5:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	ENSP00000400144.1:n.997+121_997+122insGCT...
ENST00000465943.1:n.469+121_469+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT
ENST00000494738.5:n.2576+121_2576+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT
NM_023083.3:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	NP_075571.1:n.997+121_997+122insGCTGTCCCA...
NM_023085.3:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	NP_075573.2:n.997+121_997+122insGCTGTCCCA...
NM_023083.4:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT MANE Select	NP_075571.2:n.997+121_997+122insGCTGTCCCA...
NM_023085.4:c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT	NP_075573.3:n.997+121_997+122insGCTGTCCCA...