Canonical Allele Identifier: CA2335088934

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573131_38573146delinsAGCCAAGGTGCCTGAC , CM000681.2:g.38573131_38573146delinsAGCCAAGGTGCCTGAC	GRCh38
NC_000019.9:g.39063771_39063786delinsAGCCAAGGTGCCTGAC , CM000681.1:g.39063771_39063786delinsAGCCAAGGTGCCTGAC	GRCh37
NC_000019.8:g.43755611_43755626delinsAGCCAAGGTGCCTGAC	NCBI36
NG_008866.1:g.144432_144447delinsAGCCAAGGTGCCTGAC , LRG_766:g.144432_144447delinsAGCCAAGGTGCCTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.935-46_935-31delinsAGCCAAGGTGCCTGAC
ENST00000688602.1:c.2332-46_2332-31delinsAGCCAAGGTGCCTGAC
ENST00000689936.1:c.2304-46_2304-31delinsAGCCAAGGTGCCTGAC
ENST00000359596.8:c.13999-46_13999-31delinsAGCCAAGGTGCCTGAC MANE Select	ENSP00000352608.2:n.13999-46_13999-31delinsAGCCAAGGTGCCTGAC
ENST00000355481.8:c.13984-46_13984-31delinsAGCCAAGGTGCCTGAC	ENSP00000347667.3:n.13984-46_13984-31delinsAGCCAAGGTGCCTGAC
ENST00000359596.7:c.13999-46_13999-31delinsAGCCAAGGTGCCTGAC	ENSP00000352608.2:n.13999-46_13999-31delinsAGCCAAGGTGCCTGAC
ENST00000360985.7:c.13981-46_13981-31delinsAGCCAAGGTGCCTGAC	ENSP00000354254.4:n.13981-46_13981-31delinsAGCCAAGGTGCCTGAC
NM_000540.2:c.13999-46_13999-31delinsAGCCAAGGTGCCTGAC , LRG_766t1:c.13999-46_13999-31delinsAGCCAAGGTGCCTGAC	NP_000531.2:n.13999-46_13999-31delinsAGCCAAGGTGCCTGAC
NM_001042723.1:c.13984-46_13984-31delinsAGCCAAGGTGCCTGAC	NP_001036188.1:n.13984-46_13984-31delinsAGCCAAGGTGCCTGAC
XM_006723317.1:c.13981-46_13981-31delinsAGCCAAGGTGCCTGAC	XP_006723380.1:n.13981-46_13981-31delinsAGCCAAGGTGCCTGAC
XM_006723319.1:c.13966-46_13966-31delinsAGCCAAGGTGCCTGAC	XP_006723382.1:n.13966-46_13966-31delinsAGCCAAGGTGCCTGAC
XM_011527204.1:c.13996-46_13996-31delinsAGCCAAGGTGCCTGAC	XP_011525506.1:n.13996-46_13996-31delinsAGCCAAGGTGCCTGAC
XM_011527205.1:c.13912-46_13912-31delinsAGCCAAGGTGCCTGAC	XP_011525507.1:n.13912-46_13912-31delinsAGCCAAGGTGCCTGAC
XM_006723317.2:c.13981-46_13981-31delinsAGCCAAGGTGCCTGAC	XP_006723380.1:n.13981-46_13981-31delinsAGCCAAGGTGCCTGAC
XM_006723319.2:c.13966-46_13966-31delinsAGCCAAGGTGCCTGAC	XP_006723382.1:n.13966-46_13966-31delinsAGCCAAGGTGCCTGAC
XM_011527205.2:c.13912-46_13912-31delinsAGCCAAGGTGCCTGAC	XP_011525507.1:n.13912-46_13912-31delinsAGCCAAGGTGCCTGAC
NM_000540.3:c.13999-46_13999-31delinsAGCCAAGGTGCCTGAC MANE Select	NP_000531.2:n.13999-46_13999-31delinsAGCCAAGGTGCCTGAC
NM_001042723.2:c.13984-46_13984-31delinsAGCCAAGGTGCCTGAC	NP_001036188.1:n.13984-46_13984-31delinsAGCCAAGGTGCCTGAC