Canonical Allele Identifier: CA2839213503

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573366_38573367insGTCCCCTCCTGC , CM000681.2:g.38573366_38573367insGTCCCCTCCTGC	GRCh38
NC_000019.9:g.39064006_39064007insGTCCCCTCCTGC , CM000681.1:g.39064006_39064007insGTCCCCTCCTGC	GRCh37
NC_000019.8:g.43755846_43755847insGTCCCCTCCTGC	NCBI36
NG_008866.1:g.144667_144668insGTCCCCTCCTGC , LRG_766:g.144667_144668insGTCCCCTCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1065+59_1065+60insGTCCCCTCCTGC
ENST00000688602.1:c.2462+59_2462+60insGTCCCCTCCTGC
ENST00000689936.1:c.2434+59_2434+60insGTCCCCTCCTGC
ENST00000359596.8:c.14129+59_14129+60insGTCCCCTCCTGC MANE Select	ENSP00000352608.2:n.14129+59_14129+60insGTCCCCTCCTGC
ENST00000355481.8:c.14114+59_14114+60insGTCCCCTCCTGC	ENSP00000347667.3:n.14114+59_14114+60insGTCCCCTCCTGC
ENST00000359596.7:c.14129+59_14129+60insGTCCCCTCCTGC	ENSP00000352608.2:n.14129+59_14129+60insGTCCCCTCCTGC
ENST00000360985.7:c.14111+59_14111+60insGTCCCCTCCTGC	ENSP00000354254.4:n.14111+59_14111+60insGTCCCCTCCTGC
NM_000540.2:c.14129+59_14129+60insGTCCCCTCCTGC , LRG_766t1:c.14129+59_14129+60insGTCCCCTCCTGC	NP_000531.2:n.14129+59_14129+60insGTCCCCTCCTGC
NM_001042723.1:c.14114+59_14114+60insGTCCCCTCCTGC	NP_001036188.1:n.14114+59_14114+60insGTCCCCTCCTGC
XM_006723317.1:c.14111+59_14111+60insGTCCCCTCCTGC	XP_006723380.1:n.14111+59_14111+60insGTCCCCTCCTGC
XM_006723319.1:c.14096+59_14096+60insGTCCCCTCCTGC	XP_006723382.1:n.14096+59_14096+60insGTCCCCTCCTGC
XM_011527204.1:c.14126+59_14126+60insGTCCCCTCCTGC	XP_011525506.1:n.14126+59_14126+60insGTCCCCTCCTGC
XM_011527205.1:c.14042+59_14042+60insGTCCCCTCCTGC	XP_011525507.1:n.14042+59_14042+60insGTCCCCTCCTGC
XM_006723317.2:c.14111+59_14111+60insGTCCCCTCCTGC	XP_006723380.1:n.14111+59_14111+60insGTCCCCTCCTGC
XM_006723319.2:c.14096+59_14096+60insGTCCCCTCCTGC	XP_006723382.1:n.14096+59_14096+60insGTCCCCTCCTGC
XM_011527205.2:c.14042+59_14042+60insGTCCCCTCCTGC	XP_011525507.1:n.14042+59_14042+60insGTCCCCTCCTGC
NM_000540.3:c.14129+59_14129+60insGTCCCCTCCTGC MANE Select	NP_000531.2:n.14129+59_14129+60insGTCCCCTCCTGC
NM_001042723.2:c.14114+59_14114+60insGTCCCCTCCTGC	NP_001036188.1:n.14114+59_14114+60insGTCCCCTCCTGC