Canonical Allele Identifier: CA2335084801

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565308_38565314delinsCCCGCGA , CM000681.2:g.38565308_38565314delinsCCCGCGA	GRCh38
NC_000019.9:g.39055948_39055954delinsCCCGCGA , CM000681.1:g.39055948_39055954delinsCCCGCGA	GRCh37
NC_000019.8:g.43747788_43747794delinsCCCGCGA	NCBI36
NG_008866.1:g.136609_136615delinsCCCGCGA , LRG_766:g.136609_136615delinsCCCGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1384_1390delinsCCCGCGA
ENST00000689936.1:c.1366_1372delinsCCCGCGA
ENST00000359596.8:c.12974_12980delinsCCCGCGA MANE Select	ENSP00000352608.2:p.Ala4325=
ENST00000355481.8:c.12959_12965delinsCCCGCGA	ENSP00000347667.3:p.Ala4320=
ENST00000359596.7:c.12974_12980delinsCCCGCGA	ENSP00000352608.2:p.Ala4325=
ENST00000360985.7:c.12956_12962delinsCCCGCGA	ENSP00000354254.4:p.Ala4319=
NM_000540.2:c.12974_12980delinsCCCGCGA , LRG_766t1:c.12974_12980delinsCCCGCGA	NP_000531.2:p.Ala4325=
NM_001042723.1:c.12959_12965delinsCCCGCGA	NP_001036188.1:p.Ala4320=
XM_006723317.1:c.12956_12962delinsCCCGCGA	XP_006723380.1:p.Ala4319=
XM_006723319.1:c.12941_12947delinsCCCGCGA	XP_006723382.1:p.Ala4314=
XM_011527204.1:c.12971_12977delinsCCCGCGA	XP_011525506.1:p.Ala4324=
XM_011527205.1:c.12974_12980delinsCCCGCGA	XP_011525507.1:p.Ala4325=
XM_006723317.2:c.12956_12962delinsCCCGCGA	XP_006723380.1:p.Ala4319=
XM_006723319.2:c.12941_12947delinsCCCGCGA	XP_006723382.1:p.Ala4314=
XM_011527205.2:c.12974_12980delinsCCCGCGA	XP_011525507.1:p.Ala4325=
NM_000540.3:c.12974_12980delinsCCCGCGA MANE Select	NP_000531.2:p.Ala4325=
NM_001042723.2:c.12959_12965delinsCCCGCGA	NP_001036188.1:p.Ala4320=