Canonical Allele Identifier: CA2663979763

Gene: CAPN10

Linked Data

• gnomAD v4: 2-240594824-A-AGATGATTCTGTCACAGCAGCCGCGAGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240594836_240594837insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC , CM000664.2:g.240594836_240594837insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	GRCh38
NC_000002.11:g.241534253_241534254insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC , CM000664.1:g.241534253_241534254insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	GRCh37
NC_000002.10:g.241182926_241182927insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	NCBI36
NG_011558.2:g.13121_13122insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000391984.7:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC MANE Select	ENSP00000375844.2:n.997+127_997+128insACA...
ENST00000270361.15:c.*161+127_*161+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	ENSP00000270361.11:n.*161+127_*161+128ins...
ENST00000270364.11:c.273+5362_273+5363insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	ENSP00000270364.7:n.273+5362_273+5363insA...
ENST00000352879.8:c.142-3052_142-3051insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	ENSP00000289381.6:n.142-3052_142-3051insA...
ENST00000354082.8:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	ENSP00000270362.6:n.997+127_997+128insACA...
ENST00000357048.8:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	ENSP00000349556.4:n.997+127_997+128insACA...
ENST00000391983.7:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	ENSP00000375843.3:n.997+127_997+128insACA...
ENST00000391984.6:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	ENSP00000375844.2:n.997+127_997+128insACA...
ENST00000404753.7:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	ENSP00000384422.3:n.997+127_997+128insACA...
ENST00000416591.5:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	ENSP00000400144.1:n.997+127_997+128insACA...
ENST00000465943.1:n.469+127_469+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC
ENST00000494738.5:n.2576+127_2576+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC
NM_023083.3:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	NP_075571.1:n.997+127_997+128insACAGCAGCC...
NM_023085.3:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	NP_075573.2:n.997+127_997+128insACAGCAGCC...
NM_023083.4:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC MANE Select	NP_075571.2:n.997+127_997+128insACAGCAGCC...
NM_023085.4:c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC	NP_075573.3:n.997+127_997+128insACAGCAGCC...