Canonical Allele Identifier: CA1044051852
Gene: CAPN10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240594828_240594829insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG , CM000664.2:g.240594828_240594829insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG GRCh38
NC_000002.11:g.241534245_241534246insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG , CM000664.1:g.241534245_241534246insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG GRCh37
NC_000002.10:g.241182918_241182919insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG NCBI36
NG_011558.2:g.13113_13114insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG

Transcript Alleles

HGVS Amino-acid change
ENST00000391984.7:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG MANE Select ENSP00000375844.2:n.997+119_997+120insCTT...
ENST00000270361.15:c.*161+119_*161+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG ENSP00000270361.11:n.*161+119_*161+120ins...
ENST00000270364.11:c.273+5354_273+5355insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG ENSP00000270364.7:n.273+5354_273+5355insC...
ENST00000352879.8:c.142-3060_142-3059insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG ENSP00000289381.6:n.142-3060_142-3059insC...
ENST00000354082.8:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG ENSP00000270362.6:n.997+119_997+120insCTT...
ENST00000357048.8:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG ENSP00000349556.4:n.997+119_997+120insCTT...
ENST00000391983.7:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG ENSP00000375843.3:n.997+119_997+120insCTT...
ENST00000391984.6:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG ENSP00000375844.2:n.997+119_997+120insCTT...
ENST00000404753.7:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG ENSP00000384422.3:n.997+119_997+120insCTT...
ENST00000416591.5:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG ENSP00000400144.1:n.997+119_997+120insCTT...
ENST00000465943.1:n.469+119_469+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG
ENST00000494738.5:n.2576+119_2576+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG
NM_023083.3:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG NP_075571.1:n.997+119_997+120insCTTCTGTCC...
NM_023085.3:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG NP_075573.2:n.997+119_997+120insCTTCTGTCC...
NM_023083.4:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG MANE Select NP_075571.2:n.997+119_997+120insCTTCTGTCC...
NM_023085.4:c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG NP_075573.3:n.997+119_997+120insCTTCTGTCC...