Canonical Allele Identifier: CA2584900633

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502751-T-TGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , CM000681.2:g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	GRCh38
NC_000019.9:g.38993449_38993450insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , CM000681.1:g.38993449_38993450insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	GRCh37
NC_000019.8:g.43685289_43685290insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	NCBI36
NG_008866.1:g.74110_74111insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , LRG_766:g.74110_74111insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG

Transcript Alleles

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