Canonical Allele Identifier: CA2335084499

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38564855_38564922delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG , CM000681.2:g.38564855_38564922delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	GRCh38
NC_000019.9:g.39055495_39055562delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG , CM000681.1:g.39055495_39055562delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	GRCh37
NC_000019.8:g.43747335_43747402delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	NCBI36
NG_008866.1:g.136156_136223delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG , LRG_766:g.136156_136223delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1035-104_1035-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG
ENST00000689936.1:c.1017-104_1017-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG
ENST00000359596.8:c.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG MANE Select	ENSP00000352608.2:n.12625-104_12625-37delinsAACAGCGCCTGCCGCGG...
ENST00000355481.8:c.12610-104_12610-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	ENSP00000347667.3:n.12610-104_12610-37delinsAACAGCGCCTGCCGCGG...
ENST00000359596.7:c.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	ENSP00000352608.2:n.12625-104_12625-37delinsAACAGCGCCTGCCGCGG...
ENST00000360985.7:c.12607-104_12607-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	ENSP00000354254.4:n.12607-104_12607-37delinsAACAGCGCCTGCCGCGG...
ENST00000594335.5:c.5994-104_5994-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG
NM_000540.2:c.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG , LRG_766t1:c.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	NP_000531.2:n.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGACCC...
NM_001042723.1:c.12610-104_12610-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	NP_001036188.1:n.12610-104_12610-37delinsAACAGCGCCTGCCGCGGTGA...
XM_006723317.1:c.12607-104_12607-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	XP_006723380.1:n.12607-104_12607-37delinsAACAGCGCCTGCCGCGGTGA...
XM_006723319.1:c.12592-104_12592-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	XP_006723382.1:n.12592-104_12592-37delinsAACAGCGCCTGCCGCGGTGA...
XM_011527204.1:c.12622-104_12622-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	XP_011525506.1:n.12622-104_12622-37delinsAACAGCGCCTGCCGCGGTGA...
XM_011527205.1:c.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	XP_011525507.1:n.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGA...
XM_006723317.2:c.12607-104_12607-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	XP_006723380.1:n.12607-104_12607-37delinsAACAGCGCCTGCCGCGGTGA...
XM_006723319.2:c.12592-104_12592-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	XP_006723382.1:n.12592-104_12592-37delinsAACAGCGCCTGCCGCGGTGA...
XM_011527205.2:c.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	XP_011525507.1:n.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGA...
NM_000540.3:c.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG MANE Select	NP_000531.2:n.12625-104_12625-37delinsAACAGCGCCTGCCGCGGTGACCC...
NM_001042723.2:c.12610-104_12610-37delinsAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTG	NP_001036188.1:n.12610-104_12610-37delinsAACAGCGCCTGCCGCGGTGA...