Canonical Allele Identifier: CA2335084651

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565122_38565143delinsAGGGCGCGGGCGCGGCGGAGGC , CM000681.2:g.38565122_38565143delinsAGGGCGCGGGCGCGGCGGAGGC	GRCh38
NC_000019.9:g.39055762_39055783delinsAGGGCGCGGGCGCGGCGGAGGC , CM000681.1:g.39055762_39055783delinsAGGGCGCGGGCGCGGCGGAGGC	GRCh37
NC_000019.8:g.43747602_43747623delinsAGGGCGCGGGCGCGGCGGAGGC	NCBI36
NG_008866.1:g.136423_136444delinsAGGGCGCGGGCGCGGCGGAGGC , LRG_766:g.136423_136444delinsAGGGCGCGGGCGCGGCGGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1198_1219delinsAGGGCGCGGGCGCGGCGGAGGC
ENST00000689936.1:c.1180_1201delinsAGGGCGCGGGCGCGGCGGAGGC
ENST00000359596.8:c.12788_12809delinsAGGGCGCGGGCGCGGCGGAGGC MANE Select	ENSP00000352608.2:p.Glu4263=
ENST00000355481.8:c.12773_12794delinsAGGGCGCGGGCGCGGCGGAGGC	ENSP00000347667.3:p.Glu4258=
ENST00000359596.7:c.12788_12809delinsAGGGCGCGGGCGCGGCGGAGGC	ENSP00000352608.2:p.Glu4263=
ENST00000360985.7:c.12770_12791delinsAGGGCGCGGGCGCGGCGGAGGC	ENSP00000354254.4:p.Glu4257=
ENST00000594335.5:c.6157_6178delinsAGGGCGCGGGCGCGGCGGAGGC
NM_000540.2:c.12788_12809delinsAGGGCGCGGGCGCGGCGGAGGC , LRG_766t1:c.12788_12809delinsAGGGCGCGGGCGCGGCGGAGGC	NP_000531.2:p.Glu4263=
NM_001042723.1:c.12773_12794delinsAGGGCGCGGGCGCGGCGGAGGC	NP_001036188.1:p.Glu4258=
XM_006723317.1:c.12770_12791delinsAGGGCGCGGGCGCGGCGGAGGC	XP_006723380.1:p.Glu4257=
XM_006723319.1:c.12755_12776delinsAGGGCGCGGGCGCGGCGGAGGC	XP_006723382.1:p.Glu4252=
XM_011527204.1:c.12785_12806delinsAGGGCGCGGGCGCGGCGGAGGC	XP_011525506.1:p.Glu4262=
XM_011527205.1:c.12788_12809delinsAGGGCGCGGGCGCGGCGGAGGC	XP_011525507.1:p.Glu4263=
XM_006723317.2:c.12770_12791delinsAGGGCGCGGGCGCGGCGGAGGC	XP_006723380.1:p.Glu4257=
XM_006723319.2:c.12755_12776delinsAGGGCGCGGGCGCGGCGGAGGC	XP_006723382.1:p.Glu4252=
XM_011527205.2:c.12788_12809delinsAGGGCGCGGGCGCGGCGGAGGC	XP_011525507.1:p.Glu4263=
NM_000540.3:c.12788_12809delinsAGGGCGCGGGCGCGGCGGAGGC MANE Select	NP_000531.2:p.Glu4263=
NM_001042723.2:c.12773_12794delinsAGGGCGCGGGCGCGGCGGAGGC	NP_001036188.1:p.Glu4258=