Canonical Allele Identifier: CA2499225474

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1067631
• ClinVar RCV Id: RCV001378950
• dbSNP Id: rs2145723826

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38528646_38528775delinsCCTCAA , CM000681.2:g.38528646_38528775delinsCCTCAA	GRCh38
NC_000019.9:g.39019286_39019415delinsCCTCAA , CM000681.1:g.39019286_39019415delinsCCTCAA	GRCh37
NC_000019.8:g.43711126_43711255delinsCCTCAA	NCBI36
NG_008866.1:g.99947_100076delinsCCTCAA , LRG_766:g.99947_100076delinsCCTCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.10924_10973+80delinsCCTCAA
ENST00000359596.8:c.10985_11034+80delinsCCTCAA
ENST00000355481.8:c.10970_11019+80delinsCCTCAA
ENST00000359596.7:c.10985_11034+80delinsCCTCAA
ENST00000360985.7:c.10967_11016+80delinsCCTCAA
ENST00000594335.5:c.4372_4421+80delinsCCTCAA
ENST00000599547.5:c.1792_1841+80delinsCCTCAA
ENST00000601514.5:c.266_315+80delinsCCTCAA
NM_000540.2:c.10985_11034+80delinsCCTCAA , LRG_766t1:c.10985_11034+80delinsCCTCAA
NM_001042723.1:c.10970_11019+80delinsCCTCAA
XM_006723317.1:c.10985_11034+80delinsCCTCAA
XM_006723319.1:c.10970_11019+80delinsCCTCAA
XM_011527204.1:c.10982_11031+80delinsCCTCAA
XM_011527205.1:c.10985_11034+80delinsCCTCAA
XM_006723317.2:c.10985_11034+80delinsCCTCAA
XM_006723319.2:c.10970_11019+80delinsCCTCAA
XM_011527205.2:c.10985_11034+80delinsCCTCAA
NM_000540.3:c.10985_11034+80delinsCCTCAA
NM_001042723.2:c.10970_11019+80delinsCCTCAA