Canonical Allele Identifier: CA2663979679

Gene: CAPN10

Linked Data

• gnomAD v4: 2-240594824-A-AGATTCTGTCCCAGGAGCCGGGAGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240594827_240594828insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT , CM000664.2:g.240594827_240594828insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	GRCh38
NC_000002.11:g.241534244_241534245insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT , CM000664.1:g.241534244_241534245insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	GRCh37
NC_000002.10:g.241182917_241182918insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	NCBI36
NG_011558.2:g.13112_13113insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000391984.7:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT MANE Select	ENSP00000375844.2:n.997+118_997+119insTCT...
ENST00000270361.15:c.*161+118_*161+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	ENSP00000270361.11:n.*161+118_*161+119ins...
ENST00000270364.11:c.273+5353_273+5354insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	ENSP00000270364.7:n.273+5353_273+5354insT...
ENST00000352879.8:c.142-3061_142-3060insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	ENSP00000289381.6:n.142-3061_142-3060insT...
ENST00000354082.8:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	ENSP00000270362.6:n.997+118_997+119insTCT...
ENST00000357048.8:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	ENSP00000349556.4:n.997+118_997+119insTCT...
ENST00000391983.7:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	ENSP00000375843.3:n.997+118_997+119insTCT...
ENST00000391984.6:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	ENSP00000375844.2:n.997+118_997+119insTCT...
ENST00000404753.7:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	ENSP00000384422.3:n.997+118_997+119insTCT...
ENST00000416591.5:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	ENSP00000400144.1:n.997+118_997+119insTCT...
ENST00000465943.1:n.469+118_469+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT
ENST00000494738.5:n.2576+118_2576+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT
NM_023083.3:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	NP_075571.1:n.997+118_997+119insTCTGTCCCA...
NM_023085.3:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	NP_075573.2:n.997+118_997+119insTCTGTCCCA...
NM_023083.4:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT MANE Select	NP_075571.2:n.997+118_997+119insTCTGTCCCA...
NM_023085.4:c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT	NP_075573.3:n.997+118_997+119insTCTGTCCCA...