Canonical Allele Identifier: CA2607661241

Gene: CAPN10

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240594825_240594826insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG , CM000664.2:g.240594825_240594826insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	GRCh38
NC_000002.11:g.241534242_241534243insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG , CM000664.1:g.241534242_241534243insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	GRCh37
NC_000002.10:g.241182915_241182916insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	NCBI36
NG_011558.2:g.13110_13111insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000391984.7:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG MANE Select	ENSP00000375844.2:n.997+116_997+117insCTG...
ENST00000270361.15:c.*161+116_*161+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	ENSP00000270361.11:n.*161+116_*161+117ins...
ENST00000270364.11:c.273+5351_273+5352insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	ENSP00000270364.7:n.273+5351_273+5352insC...
ENST00000352879.8:c.142-3063_142-3062insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	ENSP00000289381.6:n.142-3063_142-3062insC...
ENST00000354082.8:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	ENSP00000270362.6:n.997+116_997+117insCTG...
ENST00000357048.8:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	ENSP00000349556.4:n.997+116_997+117insCTG...
ENST00000391983.7:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	ENSP00000375843.3:n.997+116_997+117insCTG...
ENST00000391984.6:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	ENSP00000375844.2:n.997+116_997+117insCTG...
ENST00000404753.7:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	ENSP00000384422.3:n.997+116_997+117insCTG...
ENST00000416591.5:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	ENSP00000400144.1:n.997+116_997+117insCTG...
ENST00000465943.1:n.469+116_469+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG
ENST00000494738.5:n.2576+116_2576+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG
NM_023083.3:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	NP_075571.1:n.997+116_997+117insCTGATTCTG...
NM_023085.3:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	NP_075573.2:n.997+116_997+117insCTGATTCTG...
NM_023083.4:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG MANE Select	NP_075571.2:n.997+116_997+117insCTGATTCTG...
NM_023085.4:c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG	NP_075573.3:n.997+116_997+117insCTGATTCTG...