Canonical Allele Identifier: CA2584900904

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502804-C-CAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , CM000681.2:g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	GRCh38
NC_000019.9:g.38993449_38993450insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , CM000681.1:g.38993449_38993450insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	GRCh37
NC_000019.8:g.43685289_43685290insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	NCBI36
NG_008866.1:g.74110_74111insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , LRG_766:g.74110_74111insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG

Transcript Alleles

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