Canonical Allele Identifier: CA2335054532

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502763_38502773delinsAGGGGCAGGGG , CM000681.2:g.38502763_38502773delinsAGGGGCAGGGG	GRCh38
NC_000019.9:g.38993403_38993413delinsAGGGGCAGGGG , CM000681.1:g.38993403_38993413delinsAGGGGCAGGGG	GRCh37
NC_000019.8:g.43685243_43685253delinsAGGGGCAGGGG	NCBI36
NG_008866.1:g.74064_74074delinsAGGGGCAGGGG , LRG_766:g.74064_74074delinsAGGGGCAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+36_7835+46delinsAGGGGCAGGGG	ENSP00000471601.2:n.7835+36_7835+46delinsAGGGGCAGGGG
ENST00000359596.8:c.7835+36_7835+46delinsAGGGGCAGGGG MANE Select	ENSP00000352608.2:n.7835+36_7835+46delinsAGGGGCAGGGG
ENST00000355481.8:c.7835+36_7835+46delinsAGGGGCAGGGG	ENSP00000347667.3:n.7835+36_7835+46delinsAGGGGCAGGGG
ENST00000359596.7:c.7835+36_7835+46delinsAGGGGCAGGGG	ENSP00000352608.2:n.7835+36_7835+46delinsAGGGGCAGGGG
ENST00000360985.7:c.7832+36_7832+46delinsAGGGGCAGGGG	ENSP00000354254.4:n.7832+36_7832+46delinsAGGGGCAGGGG
ENST00000594335.5:c.1287+36_1287+46delinsAGGGGCAGGGG
NM_000540.2:c.7835+36_7835+46delinsAGGGGCAGGGG , LRG_766t1:c.7835+36_7835+46delinsAGGGGCAGGGG	NP_000531.2:n.7835+36_7835+46delinsAGGGGCAGGGG
NM_001042723.1:c.7835+36_7835+46delinsAGGGGCAGGGG	NP_001036188.1:n.7835+36_7835+46delinsAGGGGCAGGGG
XM_006723317.1:c.7835+36_7835+46delinsAGGGGCAGGGG	XP_006723380.1:n.7835+36_7835+46delinsAGGGGCAGGGG
XM_006723319.1:c.7835+36_7835+46delinsAGGGGCAGGGG	XP_006723382.1:n.7835+36_7835+46delinsAGGGGCAGGGG
XM_011527204.1:c.7832+36_7832+46delinsAGGGGCAGGGG	XP_011525506.1:n.7832+36_7832+46delinsAGGGGCAGGGG
XM_011527205.1:c.7835+36_7835+46delinsAGGGGCAGGGG	XP_011525507.1:n.7835+36_7835+46delinsAGGGGCAGGGG
XM_006723317.2:c.7835+36_7835+46delinsAGGGGCAGGGG	XP_006723380.1:n.7835+36_7835+46delinsAGGGGCAGGGG
XM_006723319.2:c.7835+36_7835+46delinsAGGGGCAGGGG	XP_006723382.1:n.7835+36_7835+46delinsAGGGGCAGGGG
XM_011527205.2:c.7835+36_7835+46delinsAGGGGCAGGGG	XP_011525507.1:n.7835+36_7835+46delinsAGGGGCAGGGG
XR_001753735.1:n.7918+36_7918+46delinsAGGGGCAGGGG
NM_000540.3:c.7835+36_7835+46delinsAGGGGCAGGGG MANE Select	NP_000531.2:n.7835+36_7835+46delinsAGGGGCAGGGG
NM_001042723.2:c.7835+36_7835+46delinsAGGGGCAGGGG	NP_001036188.1:n.7835+36_7835+46delinsAGGGGCAGGGG