Canonical Allele Identifier: CA2335054558

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502770_38502814delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA , CM000681.2:g.38502770_38502814delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	GRCh38
NC_000019.9:g.38993410_38993454delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA , CM000681.1:g.38993410_38993454delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	GRCh37
NC_000019.8:g.43685250_43685294delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	NCBI36
NG_008866.1:g.74071_74115delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA , LRG_766:g.74071_74115delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	ENSP00000471601.2:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGG...
ENST00000359596.8:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA MANE Select	ENSP00000352608.2:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGG...
ENST00000355481.8:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	ENSP00000347667.3:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGG...
ENST00000359596.7:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	ENSP00000352608.2:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGG...
ENST00000360985.7:c.7832+43_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	ENSP00000354254.4:n.7832+43_7833-66delinsGGGGCAGGGGCAGGGGCAGG...
ENST00000594335.5:c.1287+43_1288-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
NM_000540.2:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA , LRG_766t1:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	NP_000531.2:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGG...
NM_001042723.1:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	NP_001036188.1:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGC...
XM_006723317.1:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	XP_006723380.1:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGC...
XM_006723319.1:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	XP_006723382.1:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGC...
XM_011527204.1:c.7832+43_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	XP_011525506.1:n.7832+43_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGC...
XM_011527205.1:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	XP_011525507.1:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGC...
XM_006723317.2:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	XP_006723380.1:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGC...
XM_006723319.2:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	XP_006723382.1:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGC...
XM_011527205.2:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	XP_011525507.1:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGC...
XR_001753735.1:n.7918+43_7919-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
NM_000540.3:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA MANE Select	NP_000531.2:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGG...
NM_001042723.2:c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	NP_001036188.1:n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGC...