Canonical Allele Identifier: CA2335045003

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38483224_38483225delinsTG , CM000681.2:g.38483224_38483225delinsTG	GRCh38
NC_000019.9:g.38973864_38973865delinsTG , CM000681.1:g.38973864_38973865delinsTG	GRCh37
NC_000019.8:g.43665704_43665705delinsTG	NCBI36
NG_008866.1:g.54525_54526delinsTG , LRG_766:g.54525_54526delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.4708-66_4708-65delinsTG	ENSP00000471601.2:n.4708-66_4708-65delins...
ENST00000359596.8:c.4708-66_4708-65delinsTG MANE Select	ENSP00000352608.2:n.4708-66_4708-65delins...
ENST00000355481.8:c.4708-66_4708-65delinsTG	ENSP00000347667.3:n.4708-66_4708-65delins...
ENST00000359596.7:c.4708-66_4708-65delinsTG	ENSP00000352608.2:n.4708-66_4708-65delins...
ENST00000360985.7:c.4705-66_4705-65delinsTG	ENSP00000354254.4:n.4705-66_4705-65delins...
NM_000540.2:c.4708-66_4708-65delinsTG , LRG_766t1:c.4708-66_4708-65delinsTG	NP_000531.2:n.4708-66_4708-65delinsTG
NM_001042723.1:c.4708-66_4708-65delinsTG	NP_001036188.1:n.4708-66_4708-65delinsTG
XM_006723317.1:c.4708-66_4708-65delinsTG	XP_006723380.1:n.4708-66_4708-65delinsTG
XM_006723319.1:c.4708-66_4708-65delinsTG	XP_006723382.1:n.4708-66_4708-65delinsTG
XM_011527204.1:c.4705-66_4705-65delinsTG	XP_011525506.1:n.4705-66_4705-65delinsTG
XM_011527205.1:c.4708-66_4708-65delinsTG	XP_011525507.1:n.4708-66_4708-65delinsTG
XM_006723317.2:c.4708-66_4708-65delinsTG	XP_006723380.1:n.4708-66_4708-65delinsTG
XM_006723319.2:c.4708-66_4708-65delinsTG	XP_006723382.1:n.4708-66_4708-65delinsTG
XM_011527205.2:c.4708-66_4708-65delinsTG	XP_011525507.1:n.4708-66_4708-65delinsTG
XR_001753735.1:n.4791-66_4791-65delinsTG
NM_000540.3:c.4708-66_4708-65delinsTG MANE Select	NP_000531.2:n.4708-66_4708-65delinsTG
NM_001042723.2:c.4708-66_4708-65delinsTG	NP_001036188.1:n.4708-66_4708-65delinsTG