Canonical Allele Identifier: CA2584911770

Gene: RYR1

Linked Data

• gnomAD v4: 19-38587254-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587256_38587258del , CM000681.2:g.38587256_38587258del	GRCh38
NC_000019.9:g.39077896_39077898del , CM000681.1:g.39077896_39077898del	GRCh37
NC_000019.8:g.43769736_43769738del	NCBI36
NG_008866.1:g.158557_158559del , LRG_766:g.158557_158559del

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+680_1957+682del
ENST00000688602.1:c.3355-69_3355-67del
ENST00000689936.1:c.3327-69_3327-67del
ENST00000692547.1:n.415-69_415-67del
ENST00000359596.8:c.15022-69_15022-67del MANE Select	ENSP00000352608.2:n.15022-69_15022-67del
ENST00000355481.8:c.15007-69_15007-67del	ENSP00000347667.3:n.15007-69_15007-67del
ENST00000359596.7:c.15022-69_15022-67del	ENSP00000352608.2:n.15022-69_15022-67del
ENST00000360985.7:c.15004-69_15004-67del	ENSP00000354254.4:n.15004-69_15004-67del
NM_000540.2:c.15022-69_15022-67del , LRG_766t1:c.15022-69_15022-67del	NP_000531.2:n.15022-69_15022-67del
NM_001042723.1:c.15007-69_15007-67del	NP_001036188.1:n.15007-69_15007-67del
XM_006723317.1:c.15004-69_15004-67del	XP_006723380.1:n.15004-69_15004-67del
XM_006723319.1:c.14989-69_14989-67del	XP_006723382.1:n.14989-69_14989-67del
XM_011527204.1:c.15019-69_15019-67del	XP_011525506.1:n.15019-69_15019-67del
XM_011527205.1:c.14935-69_14935-67del	XP_011525507.1:n.14935-69_14935-67del
XM_006723317.2:c.15004-69_15004-67del	XP_006723380.1:n.15004-69_15004-67del
XM_006723319.2:c.14989-69_14989-67del	XP_006723382.1:n.14989-69_14989-67del
XM_011527205.2:c.14935-69_14935-67del	XP_011525507.1:n.14935-69_14935-67del
NM_000540.3:c.15022-69_15022-67del MANE Select	NP_000531.2:n.15022-69_15022-67del
NM_001042723.2:c.15007-69_15007-67del	NP_001036188.1:n.15007-69_15007-67del