Canonical Allele Identifier: CA2663979722

Gene: CAPN10

Linked Data

• gnomAD v4: 2-240594824-A-AGATGATTCTGTCCCCGGAGCCGGGAGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240594838_240594839insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC , CM000664.2:g.240594838_240594839insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	GRCh38
NC_000002.11:g.241534255_241534256insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC , CM000664.1:g.241534255_241534256insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	GRCh37
NC_000002.10:g.241182928_241182929insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	NCBI36
NG_011558.2:g.13123_13124insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000391984.7:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC MANE Select	ENSP00000375844.2:n.997+129_997+130insCGG...
ENST00000270361.15:c.*161+129_*161+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	ENSP00000270361.11:n.*161+129_*161+130ins...
ENST00000270364.11:c.273+5364_273+5365insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	ENSP00000270364.7:n.273+5364_273+5365insC...
ENST00000352879.8:c.142-3050_142-3049insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	ENSP00000289381.6:n.142-3050_142-3049insC...
ENST00000354082.8:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	ENSP00000270362.6:n.997+129_997+130insCGG...
ENST00000357048.8:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	ENSP00000349556.4:n.997+129_997+130insCGG...
ENST00000391983.7:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	ENSP00000375843.3:n.997+129_997+130insCGG...
ENST00000391984.6:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	ENSP00000375844.2:n.997+129_997+130insCGG...
ENST00000404753.7:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	ENSP00000384422.3:n.997+129_997+130insCGG...
ENST00000416591.5:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	ENSP00000400144.1:n.997+129_997+130insCGG...
ENST00000465943.1:n.469+129_469+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC
ENST00000494738.5:n.2576+129_2576+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC
NM_023083.3:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	NP_075571.1:n.997+129_997+130insCGGAGCCGG...
NM_023085.3:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	NP_075573.2:n.997+129_997+130insCGGAGCCGG...
NM_023083.4:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC MANE Select	NP_075571.2:n.997+129_997+130insCGGAGCCGG...
NM_023085.4:c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC	NP_075573.3:n.997+129_997+130insCGGAGCCGG...