Canonical Allele Identifier: CA2335024452

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38441000_38441002delinsAAG , CM000681.2:g.38441000_38441002delinsAAG	GRCh38
NC_000019.9:g.38931640_38931642delinsAAG , CM000681.1:g.38931640_38931642delinsAAG	GRCh37
NC_000019.8:g.43623480_43623482delinsAAG	NCBI36
NG_008866.1:g.12301_12303delinsAAG , LRG_766:g.12301_12303delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.165+136_165+138delinsAAG	ENSP00000471601.2:n.165+136_165+138delinsAAG
ENST00000359596.8:c.165+136_165+138delinsAAG MANE Select	ENSP00000352608.2:n.165+136_165+138delinsAAG
ENST00000355481.8:c.165+136_165+138delinsAAG	ENSP00000347667.3:n.165+136_165+138delinsAAG
ENST00000359596.7:c.165+136_165+138delinsAAG	ENSP00000352608.2:n.165+136_165+138delinsAAG
ENST00000360985.7:c.165+136_165+138delinsAAG	ENSP00000354254.4:n.165+136_165+138delinsAAG
NM_000540.2:c.165+136_165+138delinsAAG , LRG_766t1:c.165+136_165+138delinsAAG	NP_000531.2:n.165+136_165+138delinsAAG
NM_001042723.1:c.165+136_165+138delinsAAG	NP_001036188.1:n.165+136_165+138delinsAAG
XM_006723317.1:c.165+136_165+138delinsAAG	XP_006723380.1:n.165+136_165+138delinsAAG
XM_006723319.1:c.165+136_165+138delinsAAG	XP_006723382.1:n.165+136_165+138delinsAAG
XM_011527204.1:c.165+136_165+138delinsAAG	XP_011525506.1:n.165+136_165+138delinsAAG
XM_011527205.1:c.165+136_165+138delinsAAG	XP_011525507.1:n.165+136_165+138delinsAAG
XM_006723317.2:c.165+136_165+138delinsAAG	XP_006723380.1:n.165+136_165+138delinsAAG
XM_006723319.2:c.165+136_165+138delinsAAG	XP_006723382.1:n.165+136_165+138delinsAAG
XM_011527205.2:c.165+136_165+138delinsAAG	XP_011525507.1:n.165+136_165+138delinsAAG
XR_001753735.1:n.248+136_248+138delinsAAG
NM_000540.3:c.165+136_165+138delinsAAG MANE Select	NP_000531.2:n.165+136_165+138delinsAAG
NM_001042723.2:c.165+136_165+138delinsAAG	NP_001036188.1:n.165+136_165+138delinsAAG