Canonical Allele Identifier: CA2663979731

Gene: CAPN10

Linked Data

• gnomAD v4: 2-240594824-A-AGATGATTCTGTCCAAGGAGCCGGGAGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240594837_240594838insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC , CM000664.2:g.240594837_240594838insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	GRCh38
NC_000002.11:g.241534254_241534255insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC , CM000664.1:g.241534254_241534255insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	GRCh37
NC_000002.10:g.241182927_241182928insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	NCBI36
NG_011558.2:g.13122_13123insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000391984.7:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC MANE Select	ENSP00000375844.2:n.997+128_997+129insAAG...
ENST00000270361.15:c.*161+128_*161+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	ENSP00000270361.11:n.*161+128_*161+129ins...
ENST00000270364.11:c.273+5363_273+5364insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	ENSP00000270364.7:n.273+5363_273+5364insA...
ENST00000352879.8:c.142-3051_142-3050insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	ENSP00000289381.6:n.142-3051_142-3050insA...
ENST00000354082.8:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	ENSP00000270362.6:n.997+128_997+129insAAG...
ENST00000357048.8:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	ENSP00000349556.4:n.997+128_997+129insAAG...
ENST00000391983.7:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	ENSP00000375843.3:n.997+128_997+129insAAG...
ENST00000391984.6:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	ENSP00000375844.2:n.997+128_997+129insAAG...
ENST00000404753.7:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	ENSP00000384422.3:n.997+128_997+129insAAG...
ENST00000416591.5:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	ENSP00000400144.1:n.997+128_997+129insAAG...
ENST00000465943.1:n.469+128_469+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC
ENST00000494738.5:n.2576+128_2576+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC
NM_023083.3:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	NP_075571.1:n.997+128_997+129insAAGGAGCCG...
NM_023085.3:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	NP_075573.2:n.997+128_997+129insAAGGAGCCG...
NM_023083.4:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC MANE Select	NP_075571.2:n.997+128_997+129insAAGGAGCCG...
NM_023085.4:c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC	NP_075573.3:n.997+128_997+129insAAGGAGCCG...