Canonical Allele Identifier: CA2663979771

Gene: CAPN10

Linked Data

• gnomAD v4: 2-240594824-A-AGATGATTCTGGCCCAGGAGCCGGGAGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240594834_240594835insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG , CM000664.2:g.240594834_240594835insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	GRCh38
NC_000002.11:g.241534251_241534252insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG , CM000664.1:g.241534251_241534252insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	GRCh37
NC_000002.10:g.241182924_241182925insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	NCBI36
NG_011558.2:g.13119_13120insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000391984.7:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG MANE Select	ENSP00000375844.2:n.997+125_997+126insGCC...
ENST00000270361.15:c.*161+125_*161+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	ENSP00000270361.11:n.*161+125_*161+126ins...
ENST00000270364.11:c.273+5360_273+5361insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	ENSP00000270364.7:n.273+5360_273+5361insG...
ENST00000352879.8:c.142-3054_142-3053insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	ENSP00000289381.6:n.142-3054_142-3053insG...
ENST00000354082.8:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	ENSP00000270362.6:n.997+125_997+126insGCC...
ENST00000357048.8:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	ENSP00000349556.4:n.997+125_997+126insGCC...
ENST00000391983.7:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	ENSP00000375843.3:n.997+125_997+126insGCC...
ENST00000391984.6:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	ENSP00000375844.2:n.997+125_997+126insGCC...
ENST00000404753.7:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	ENSP00000384422.3:n.997+125_997+126insGCC...
ENST00000416591.5:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	ENSP00000400144.1:n.997+125_997+126insGCC...
ENST00000465943.1:n.469+125_469+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG
ENST00000494738.5:n.2576+125_2576+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG
NM_023083.3:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	NP_075571.1:n.997+125_997+126insGCCCAGGAG...
NM_023085.3:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	NP_075573.2:n.997+125_997+126insGCCCAGGAG...
NM_023083.4:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG MANE Select	NP_075571.2:n.997+125_997+126insGCCCAGGAG...
NM_023085.4:c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG	NP_075573.3:n.997+125_997+126insGCCCAGGAG...