Canonical Allele Identifier: CA2335052727

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499423_38499468delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG , CM000681.2:g.38499423_38499468delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	GRCh38
NC_000019.9:g.38990063_38990108delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG , CM000681.1:g.38990063_38990108delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	GRCh37
NC_000019.8:g.43681903_43681948delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	NCBI36
NG_008866.1:g.70724_70769delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG , LRG_766:g.70724_70769delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	ENSP00000471601.2:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGC...
ENST00000359596.8:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG MANE Select	ENSP00000352608.2:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGC...
ENST00000355481.8:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	ENSP00000347667.3:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGC...
ENST00000359596.7:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	ENSP00000352608.2:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGC...
ENST00000360985.7:c.7024+180_7025-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	ENSP00000354254.4:n.7024+180_7025-167delinsAGTGTTGGATCCTGGGGC...
ENST00000594335.5:c.479+180_480-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG
NM_000540.2:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG , LRG_766t1:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	NP_000531.2:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGG...
NM_001042723.1:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	NP_001036188.1:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGG...
XM_006723317.1:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	XP_006723380.1:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGG...
XM_006723319.1:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	XP_006723382.1:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGG...
XM_011527204.1:c.7024+180_7025-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	XP_011525506.1:n.7024+180_7025-167delinsAGTGTTGGATCCTGGGGCTGG...
XM_011527205.1:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	XP_011525507.1:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGG...
XM_006723317.2:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	XP_006723380.1:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGG...
XM_006723319.2:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	XP_006723382.1:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGG...
XM_011527205.2:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	XP_011525507.1:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGG...
XR_001753735.1:n.7110+180_7111-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG
NM_000540.3:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG MANE Select	NP_000531.2:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGG...
NM_001042723.2:c.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAG	NP_001036188.1:n.7027+180_7028-167delinsAGTGTTGGATCCTGGGGCTGG...