Canonical Allele Identifier: CA2335053007

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499907_38499908delinsGC , CM000681.2:g.38499907_38499908delinsGC	GRCh38
NC_000019.9:g.38990547_38990548delinsGC , CM000681.1:g.38990547_38990548delinsGC	GRCh37
NC_000019.8:g.43682387_43682388delinsGC	NCBI36
NG_008866.1:g.71208_71209delinsGC , LRG_766:g.71208_71209delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7215-1_7215delinsGC
ENST00000359596.8:c.7215-1_7215delinsGC
ENST00000355481.8:c.7215-1_7215delinsGC
ENST00000359596.7:c.7215-1_7215delinsGC
ENST00000360985.7:c.7212-1_7212delinsGC
ENST00000594335.5:c.667-1_667delinsGC
NM_000540.2:c.7215-1_7215delinsGC , LRG_766t1:c.7215-1_7215delinsGC
NM_001042723.1:c.7215-1_7215delinsGC
XM_006723317.1:c.7215-1_7215delinsGC
XM_006723319.1:c.7215-1_7215delinsGC
XM_011527204.1:c.7212-1_7212delinsGC
XM_011527205.1:c.7215-1_7215delinsGC
XM_006723317.2:c.7215-1_7215delinsGC
XM_006723319.2:c.7215-1_7215delinsGC
XM_011527205.2:c.7215-1_7215delinsGC
XR_001753735.1:n.7298-1_7298delinsGC
NM_000540.3:c.7215-1_7215delinsGC
NM_001042723.2:c.7215-1_7215delinsGC