Canonical Allele Identifier: CA995724554

Gene: RYR1

Linked Data

• gnomAD v4: 19-38587255-AATAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587268_38587271del , CM000681.2:g.38587268_38587271del	GRCh38
NC_000019.9:g.39077908_39077911del , CM000681.1:g.39077908_39077911del	GRCh37
NC_000019.8:g.43769748_43769751del	NCBI36
NG_008866.1:g.158569_158572del , LRG_766:g.158569_158572del

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+692_1957+695del
ENST00000688602.1:c.3355-57_3355-54del
ENST00000689936.1:c.3327-57_3327-54del
ENST00000692547.1:n.415-57_415-54del
ENST00000359596.8:c.15022-57_15022-54del MANE Select	ENSP00000352608.2:n.15022-57_15022-54del
ENST00000355481.8:c.15007-57_15007-54del	ENSP00000347667.3:n.15007-57_15007-54del
ENST00000359596.7:c.15022-57_15022-54del	ENSP00000352608.2:n.15022-57_15022-54del
ENST00000360985.7:c.15004-57_15004-54del	ENSP00000354254.4:n.15004-57_15004-54del
NM_000540.2:c.15022-57_15022-54del , LRG_766t1:c.15022-57_15022-54del	NP_000531.2:n.15022-57_15022-54del
NM_001042723.1:c.15007-57_15007-54del	NP_001036188.1:n.15007-57_15007-54del
XM_006723317.1:c.15004-57_15004-54del	XP_006723380.1:n.15004-57_15004-54del
XM_006723319.1:c.14989-57_14989-54del	XP_006723382.1:n.14989-57_14989-54del
XM_011527204.1:c.15019-57_15019-54del	XP_011525506.1:n.15019-57_15019-54del
XM_011527205.1:c.14935-57_14935-54del	XP_011525507.1:n.14935-57_14935-54del
XM_006723317.2:c.15004-57_15004-54del	XP_006723380.1:n.15004-57_15004-54del
XM_006723319.2:c.14989-57_14989-54del	XP_006723382.1:n.14989-57_14989-54del
XM_011527205.2:c.14935-57_14935-54del	XP_011525507.1:n.14935-57_14935-54del
NM_000540.3:c.15022-57_15022-54del MANE Select	NP_000531.2:n.15022-57_15022-54del
NM_001042723.2:c.15007-57_15007-54del	NP_001036188.1:n.15007-57_15007-54del