Canonical Allele Identifier: CA1044051836

Gene: CAPN10

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240594833_240594834insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT , CM000664.2:g.240594833_240594834insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	GRCh38
NC_000002.11:g.241534250_241534251insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT , CM000664.1:g.241534250_241534251insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	GRCh37
NC_000002.10:g.241182923_241182924insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	NCBI36
NG_011558.2:g.13118_13119insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000391984.7:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT MANE Select	ENSP00000375844.2:n.997+124_997+125insTTC...
ENST00000270361.15:c.*161+124_*161+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	ENSP00000270361.11:n.*161+124_*161+125ins...
ENST00000270364.11:c.273+5359_273+5360insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	ENSP00000270364.7:n.273+5359_273+5360insT...
ENST00000352879.8:c.142-3055_142-3054insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	ENSP00000289381.6:n.142-3055_142-3054insT...
ENST00000354082.8:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	ENSP00000270362.6:n.997+124_997+125insTTC...
ENST00000357048.8:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	ENSP00000349556.4:n.997+124_997+125insTTC...
ENST00000391983.7:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	ENSP00000375843.3:n.997+124_997+125insTTC...
ENST00000391984.6:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	ENSP00000375844.2:n.997+124_997+125insTTC...
ENST00000404753.7:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	ENSP00000384422.3:n.997+124_997+125insTTC...
ENST00000416591.5:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	ENSP00000400144.1:n.997+124_997+125insTTC...
ENST00000465943.1:n.469+124_469+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT
ENST00000494738.5:n.2576+124_2576+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT
NM_023083.3:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	NP_075571.1:n.997+124_997+125insTTCCCAGGA...
NM_023085.3:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	NP_075573.2:n.997+124_997+125insTTCCCAGGA...
NM_023083.4:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT MANE Select	NP_075571.2:n.997+124_997+125insTTCCCAGGA...
NM_023085.4:c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT	NP_075573.3:n.997+124_997+125insTTCCCAGGA...