Canonical Allele Identifier: CA2584897719

Gene: RYR1

Linked Data

• gnomAD v4: 19-38483243-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38483246_38483247del , CM000681.2:g.38483246_38483247del	GRCh38
NC_000019.9:g.38973886_38973887del , CM000681.1:g.38973886_38973887del	GRCh37
NC_000019.8:g.43665726_43665727del	NCBI36
NG_008866.1:g.54547_54548del , LRG_766:g.54547_54548del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.4708-44_4708-43del	ENSP00000471601.2:n.4708-44_4708-43del
ENST00000359596.8:c.4708-44_4708-43del MANE Select	ENSP00000352608.2:n.4708-44_4708-43del
ENST00000355481.8:c.4708-44_4708-43del	ENSP00000347667.3:n.4708-44_4708-43del
ENST00000359596.7:c.4708-44_4708-43del	ENSP00000352608.2:n.4708-44_4708-43del
ENST00000360985.7:c.4705-44_4705-43del	ENSP00000354254.4:n.4705-44_4705-43del
NM_000540.2:c.4708-44_4708-43del , LRG_766t1:c.4708-44_4708-43del	NP_000531.2:n.4708-44_4708-43del
NM_001042723.1:c.4708-44_4708-43del	NP_001036188.1:n.4708-44_4708-43del
XM_006723317.1:c.4708-44_4708-43del	XP_006723380.1:n.4708-44_4708-43del
XM_006723319.1:c.4708-44_4708-43del	XP_006723382.1:n.4708-44_4708-43del
XM_011527204.1:c.4705-44_4705-43del	XP_011525506.1:n.4705-44_4705-43del
XM_011527205.1:c.4708-44_4708-43del	XP_011525507.1:n.4708-44_4708-43del
XM_006723317.2:c.4708-44_4708-43del	XP_006723380.1:n.4708-44_4708-43del
XM_006723319.2:c.4708-44_4708-43del	XP_006723382.1:n.4708-44_4708-43del
XM_011527205.2:c.4708-44_4708-43del	XP_011525507.1:n.4708-44_4708-43del
XR_001753735.1:n.4791-44_4791-43del
NM_000540.3:c.4708-44_4708-43del MANE Select	NP_000531.2:n.4708-44_4708-43del
NM_001042723.2:c.4708-44_4708-43del	NP_001036188.1:n.4708-44_4708-43del