Canonical Allele Identifier: CA2335084845

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565380_38565383delinsGGGC , CM000681.2:g.38565380_38565383delinsGGGC	GRCh38
NC_000019.9:g.39056020_39056023delinsGGGC , CM000681.1:g.39056020_39056023delinsGGGC	GRCh37
NC_000019.8:g.43747860_43747863delinsGGGC	NCBI36
NG_008866.1:g.136681_136684delinsGGGC , LRG_766:g.136681_136684delinsGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1456_1459delinsGGGC
ENST00000689936.1:c.1438_1441delinsGGGC
ENST00000359596.8:c.13046_13049delinsGGGC MANE Select	ENSP00000352608.2:p.Gly4349=
ENST00000355481.8:c.13031_13034delinsGGGC	ENSP00000347667.3:p.Gly4344=
ENST00000359596.7:c.13046_13049delinsGGGC	ENSP00000352608.2:p.Gly4349=
ENST00000360985.7:c.13028_13031delinsGGGC	ENSP00000354254.4:p.Gly4343=
NM_000540.2:c.13046_13049delinsGGGC , LRG_766t1:c.13046_13049delinsGGGC	NP_000531.2:p.Gly4349=
NM_001042723.1:c.13031_13034delinsGGGC	NP_001036188.1:p.Gly4344=
XM_006723317.1:c.13028_13031delinsGGGC	XP_006723380.1:p.Gly4343=
XM_006723319.1:c.13013_13016delinsGGGC	XP_006723382.1:p.Gly4338=
XM_011527204.1:c.13043_13046delinsGGGC	XP_011525506.1:p.Gly4348=
XM_011527205.1:c.13046_13049delinsGGGC	XP_011525507.1:p.Gly4349=
XM_006723317.2:c.13028_13031delinsGGGC	XP_006723380.1:p.Gly4343=
XM_006723319.2:c.13013_13016delinsGGGC	XP_006723382.1:p.Gly4338=
XM_011527205.2:c.13046_13049delinsGGGC	XP_011525507.1:p.Gly4349=
NM_000540.3:c.13046_13049delinsGGGC MANE Select	NP_000531.2:p.Gly4349=
NM_001042723.2:c.13031_13034delinsGGGC	NP_001036188.1:p.Gly4344=