Canonical Allele Identifier: CA2335054457

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502729_38502769delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA , CM000681.2:g.38502729_38502769delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	GRCh38
NC_000019.9:g.38993369_38993409delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA , CM000681.1:g.38993369_38993409delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	GRCh37
NC_000019.8:g.43685209_43685249delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	NCBI36
NG_008866.1:g.74030_74070delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA , LRG_766:g.74030_74070delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	ENSP00000471601.2:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGG...
ENST00000359596.8:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA MANE Select	ENSP00000352608.2:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGG...
ENST00000355481.8:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	ENSP00000347667.3:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGG...
ENST00000359596.7:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	ENSP00000352608.2:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGG...
ENST00000360985.7:c.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	ENSP00000354254.4:n.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGG...
ENST00000594335.5:c.1287+2_1287+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA
NM_000540.2:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA , LRG_766t1:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	NP_000531.2:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGG...
NM_001042723.1:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	NP_001036188.1:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTG...
XM_006723317.1:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	XP_006723380.1:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTG...
XM_006723319.1:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	XP_006723382.1:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTG...
XM_011527204.1:c.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	XP_011525506.1:n.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTG...
XM_011527205.1:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	XP_011525507.1:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTG...
XM_006723317.2:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	XP_006723380.1:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTG...
XM_006723319.2:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	XP_006723382.1:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTG...
XM_011527205.2:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	XP_011525507.1:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTG...
XR_001753735.1:n.7918+2_7918+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA
NM_000540.3:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA MANE Select	NP_000531.2:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGG...
NM_001042723.2:c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA	NP_001036188.1:n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTG...