Canonical Allele Identifier: CA2584909040

Gene: RYR1

Linked Data

• gnomAD v4: 19-38564894-CGCTGTCGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38564901_38564909del , CM000681.2:g.38564901_38564909del	GRCh38
NC_000019.9:g.39055541_39055549del , CM000681.1:g.39055541_39055549del	GRCh37
NC_000019.8:g.43747381_43747389del	NCBI36
NG_008866.1:g.136202_136210del , LRG_766:g.136202_136210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1035-58_1035-50del
ENST00000689936.1:c.1017-58_1017-50del
ENST00000359596.8:c.12625-58_12625-50del MANE Select	ENSP00000352608.2:n.12625-58_12625-50del
ENST00000355481.8:c.12610-58_12610-50del	ENSP00000347667.3:n.12610-58_12610-50del
ENST00000359596.7:c.12625-58_12625-50del	ENSP00000352608.2:n.12625-58_12625-50del
ENST00000360985.7:c.12607-58_12607-50del	ENSP00000354254.4:n.12607-58_12607-50del
ENST00000594335.5:c.5994-58_5994-50del
NM_000540.2:c.12625-58_12625-50del , LRG_766t1:c.12625-58_12625-50del	NP_000531.2:n.12625-58_12625-50del
NM_001042723.1:c.12610-58_12610-50del	NP_001036188.1:n.12610-58_12610-50del
XM_006723317.1:c.12607-58_12607-50del	XP_006723380.1:n.12607-58_12607-50del
XM_006723319.1:c.12592-58_12592-50del	XP_006723382.1:n.12592-58_12592-50del
XM_011527204.1:c.12622-58_12622-50del	XP_011525506.1:n.12622-58_12622-50del
XM_011527205.1:c.12625-58_12625-50del	XP_011525507.1:n.12625-58_12625-50del
XM_006723317.2:c.12607-58_12607-50del	XP_006723380.1:n.12607-58_12607-50del
XM_006723319.2:c.12592-58_12592-50del	XP_006723382.1:n.12592-58_12592-50del
XM_011527205.2:c.12625-58_12625-50del	XP_011525507.1:n.12625-58_12625-50del
NM_000540.3:c.12625-58_12625-50del MANE Select	NP_000531.2:n.12625-58_12625-50del
NM_001042723.2:c.12610-58_12610-50del	NP_001036188.1:n.12610-58_12610-50del