Canonical Allele Identifier: CA2576772097

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565196_38565204del , CM000681.2:g.38565196_38565204del	GRCh38
NC_000019.9:g.39055836_39055844del , CM000681.1:g.39055836_39055844del	GRCh37
NC_000019.8:g.43747676_43747684del	NCBI36
NG_008866.1:g.136497_136505del , LRG_766:g.136497_136505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1272_1280del
ENST00000689936.1:c.1254_1262del
ENST00000359596.8:c.12862_12870del MANE Select	ENSP00000352608.2:p.Thr4288_Ala4290del
ENST00000355481.8:c.12847_12855del	ENSP00000347667.3:p.Thr4283_Ala4285del
ENST00000359596.7:c.12862_12870del	ENSP00000352608.2:p.Thr4288_Ala4290del
ENST00000360985.7:c.12844_12852del	ENSP00000354254.4:p.Thr4282_Ala4284del
ENST00000594335.5:c.6231_6239del
NM_000540.2:c.12862_12870del , LRG_766t1:c.12862_12870del	NP_000531.2:p.Thr4288_Ala4290del
NM_001042723.1:c.12847_12855del	NP_001036188.1:p.Thr4283_Ala4285del
XM_006723317.1:c.12844_12852del	XP_006723380.1:p.Thr4282_Ala4284del
XM_006723319.1:c.12829_12837del	XP_006723382.1:p.Thr4277_Ala4279del
XM_011527204.1:c.12859_12867del	XP_011525506.1:p.Thr4287_Ala4289del
XM_011527205.1:c.12862_12870del	XP_011525507.1:p.Thr4288_Ala4290del
XM_006723317.2:c.12844_12852del	XP_006723380.1:p.Thr4282_Ala4284del
XM_006723319.2:c.12829_12837del	XP_006723382.1:p.Thr4277_Ala4279del
XM_011527205.2:c.12862_12870del	XP_011525507.1:p.Thr4288_Ala4290del
NM_000540.3:c.12862_12870del MANE Select	NP_000531.2:p.Thr4288_Ala4290del
NM_001042723.2:c.12847_12855del	NP_001036188.1:p.Thr4283_Ala4285del