Canonical Allele Identifier: CA2335084803

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565311_38565312delinsGC , CM000681.2:g.38565311_38565312delinsGC	GRCh38
NC_000019.9:g.39055951_39055952delinsGC , CM000681.1:g.39055951_39055952delinsGC	GRCh37
NC_000019.8:g.43747791_43747792delinsGC	NCBI36
NG_008866.1:g.136612_136613delinsGC , LRG_766:g.136612_136613delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1387_1388delinsGC
ENST00000689936.1:c.1369_1370delinsGC
ENST00000359596.8:c.12977_12978delinsGC MANE Select	ENSP00000352608.2:p.Arg4326=
ENST00000355481.8:c.12962_12963delinsGC	ENSP00000347667.3:p.Arg4321=
ENST00000359596.7:c.12977_12978delinsGC	ENSP00000352608.2:p.Arg4326=
ENST00000360985.7:c.12959_12960delinsGC	ENSP00000354254.4:p.Arg4320=
NM_000540.2:c.12977_12978delinsGC , LRG_766t1:c.12977_12978delinsGC	NP_000531.2:p.Arg4326=
NM_001042723.1:c.12962_12963delinsGC	NP_001036188.1:p.Arg4321=
XM_006723317.1:c.12959_12960delinsGC	XP_006723380.1:p.Arg4320=
XM_006723319.1:c.12944_12945delinsGC	XP_006723382.1:p.Arg4315=
XM_011527204.1:c.12974_12975delinsGC	XP_011525506.1:p.Arg4325=
XM_011527205.1:c.12977_12978delinsGC	XP_011525507.1:p.Arg4326=
XM_006723317.2:c.12959_12960delinsGC	XP_006723380.1:p.Arg4320=
XM_006723319.2:c.12944_12945delinsGC	XP_006723382.1:p.Arg4315=
XM_011527205.2:c.12977_12978delinsGC	XP_011525507.1:p.Arg4326=
NM_000540.3:c.12977_12978delinsGC MANE Select	NP_000531.2:p.Arg4326=
NM_001042723.2:c.12962_12963delinsGC	NP_001036188.1:p.Arg4321=