Canonical Allele Identifier: CA2335024406

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38440895_38440897delinsCAG , CM000681.2:g.38440895_38440897delinsCAG	GRCh38
NC_000019.9:g.38931535_38931537delinsCAG , CM000681.1:g.38931535_38931537delinsCAG	GRCh37
NC_000019.8:g.43623375_43623377delinsCAG	NCBI36
NG_008866.1:g.12196_12198delinsCAG , LRG_766:g.12196_12198delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.165+31_165+33delinsCAG	ENSP00000471601.2:n.165+31_165+33delinsCAG
ENST00000359596.8:c.165+31_165+33delinsCAG MANE Select	ENSP00000352608.2:n.165+31_165+33delinsCAG
ENST00000355481.8:c.165+31_165+33delinsCAG	ENSP00000347667.3:n.165+31_165+33delinsCAG
ENST00000359596.7:c.165+31_165+33delinsCAG	ENSP00000352608.2:n.165+31_165+33delinsCAG
ENST00000360985.7:c.165+31_165+33delinsCAG	ENSP00000354254.4:n.165+31_165+33delinsCAG
NM_000540.2:c.165+31_165+33delinsCAG , LRG_766t1:c.165+31_165+33delinsCAG	NP_000531.2:n.165+31_165+33delinsCAG
NM_001042723.1:c.165+31_165+33delinsCAG	NP_001036188.1:n.165+31_165+33delinsCAG
XM_006723317.1:c.165+31_165+33delinsCAG	XP_006723380.1:n.165+31_165+33delinsCAG
XM_006723319.1:c.165+31_165+33delinsCAG	XP_006723382.1:n.165+31_165+33delinsCAG
XM_011527204.1:c.165+31_165+33delinsCAG	XP_011525506.1:n.165+31_165+33delinsCAG
XM_011527205.1:c.165+31_165+33delinsCAG	XP_011525507.1:n.165+31_165+33delinsCAG
XM_006723317.2:c.165+31_165+33delinsCAG	XP_006723380.1:n.165+31_165+33delinsCAG
XM_006723319.2:c.165+31_165+33delinsCAG	XP_006723382.1:n.165+31_165+33delinsCAG
XM_011527205.2:c.165+31_165+33delinsCAG	XP_011525507.1:n.165+31_165+33delinsCAG
XR_001753735.1:n.248+31_248+33delinsCAG
NM_000540.3:c.165+31_165+33delinsCAG MANE Select	NP_000531.2:n.165+31_165+33delinsCAG
NM_001042723.2:c.165+31_165+33delinsCAG	NP_001036188.1:n.165+31_165+33delinsCAG