Canonical Allele Identifier: CA2335054466

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502732_38502763delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA , CM000681.2:g.38502732_38502763delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	GRCh38
NC_000019.9:g.38993372_38993403delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA , CM000681.1:g.38993372_38993403delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	GRCh37
NC_000019.8:g.43685212_43685243delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	NCBI36
NG_008866.1:g.74033_74064delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA , LRG_766:g.74033_74064delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	ENSP00000471601.2:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTG...
ENST00000359596.8:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA MANE Select	ENSP00000352608.2:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTG...
ENST00000355481.8:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	ENSP00000347667.3:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTG...
ENST00000359596.7:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	ENSP00000352608.2:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTG...
ENST00000360985.7:c.7832+5_7832+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	ENSP00000354254.4:n.7832+5_7832+36delinsAGCGGGGCAGGCTTCAGGGTG...
ENST00000594335.5:c.1287+5_1287+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA
NM_000540.2:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA , LRG_766t1:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	NP_000531.2:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAG...
NM_001042723.1:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	NP_001036188.1:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGG...
XM_006723317.1:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	XP_006723380.1:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGG...
XM_006723319.1:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	XP_006723382.1:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGG...
XM_011527204.1:c.7832+5_7832+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	XP_011525506.1:n.7832+5_7832+36delinsAGCGGGGCAGGCTTCAGGGTGGGG...
XM_011527205.1:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	XP_011525507.1:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGG...
XM_006723317.2:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	XP_006723380.1:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGG...
XM_006723319.2:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	XP_006723382.1:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGG...
XM_011527205.2:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	XP_011525507.1:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGG...
XR_001753735.1:n.7918+5_7918+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA
NM_000540.3:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA MANE Select	NP_000531.2:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAG...
NM_001042723.2:c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA	NP_001036188.1:n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGG...