Canonical Allele Identifier: CA2553212418

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502809_38502810insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG , CM000681.2:g.38502809_38502810insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	GRCh38
NC_000019.9:g.38993449_38993450insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG , CM000681.1:g.38993449_38993450insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	GRCh37
NC_000019.8:g.43685289_43685290insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	NCBI36
NG_008866.1:g.74110_74111insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG , LRG_766:g.74110_74111insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	ENSP00000471601.2:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGG...
ENST00000359596.8:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG MANE Select	ENSP00000352608.2:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGG...
ENST00000355481.8:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	ENSP00000347667.3:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGG...
ENST00000359596.7:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	ENSP00000352608.2:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGG...
ENST00000360985.7:c.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	ENSP00000354254.4:n.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGG...
ENST00000594335.5:c.1288-71_1288-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
NM_000540.2:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG , LRG_766t1:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	NP_000531.2:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGA...
NM_001042723.1:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	NP_001036188.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGA...
XM_006723317.1:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	XP_006723380.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGA...
XM_006723319.1:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	XP_006723382.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGA...
XM_011527204.1:c.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	XP_011525506.1:n.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGGA...
XM_011527205.1:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	XP_011525507.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGA...
XM_006723317.2:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	XP_006723380.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGA...
XM_006723319.2:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	XP_006723382.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGA...
XM_011527205.2:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	XP_011525507.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGA...
XR_001753735.1:n.7919-71_7919-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
NM_000540.3:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG MANE Select	NP_000531.2:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGA...
NM_001042723.2:c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG	NP_001036188.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGA...