Canonical Allele Identifier: CA2584900599

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502642-CATACCGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502643_38502650del , CM000681.2:g.38502643_38502650del	GRCh38
NC_000019.9:g.38993283_38993290del , CM000681.1:g.38993283_38993290del	GRCh37
NC_000019.8:g.43685123_43685130del	NCBI36
NG_008866.1:g.73944_73951del , LRG_766:g.73944_73951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7751_7758del	ENSP00000471601.2:p.His2584LeufsTer15
ENST00000359596.8:c.7751_7758del MANE Select	ENSP00000352608.2:p.His2584LeufsTer15
ENST00000355481.8:c.7751_7758del	ENSP00000347667.3:p.His2584LeufsTer15
ENST00000359596.7:c.7751_7758del	ENSP00000352608.2:p.His2584LeufsTer15
ENST00000360985.7:c.7748_7755del	ENSP00000354254.4:p.His2583LeufsTer15
ENST00000594335.5:c.1203_1210del
NM_000540.2:c.7751_7758del , LRG_766t1:c.7751_7758del	NP_000531.2:p.His2584LeufsTer15
NM_001042723.1:c.7751_7758del	NP_001036188.1:p.His2584LeufsTer15
XM_006723317.1:c.7751_7758del	XP_006723380.1:p.His2584LeufsTer15
XM_006723319.1:c.7751_7758del	XP_006723382.1:p.His2584LeufsTer15
XM_011527204.1:c.7748_7755del	XP_011525506.1:p.His2583LeufsTer15
XM_011527205.1:c.7751_7758del	XP_011525507.1:p.His2584LeufsTer15
XM_006723317.2:c.7751_7758del	XP_006723380.1:p.His2584LeufsTer15
XM_006723319.2:c.7751_7758del	XP_006723382.1:p.His2584LeufsTer15
XM_011527205.2:c.7751_7758del	XP_011525507.1:p.His2584LeufsTer15
XR_001753735.1:n.7834_7841del
NM_000540.3:c.7751_7758del MANE Select	NP_000531.2:p.His2584LeufsTer15
NM_001042723.2:c.7751_7758del	NP_001036188.1:p.His2584LeufsTer15