Canonical Allele Identifier: CA2335096038

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587198_38587199delinsGC , CM000681.2:g.38587198_38587199delinsGC	GRCh38
NC_000019.9:g.39077838_39077839delinsGC , CM000681.1:g.39077838_39077839delinsGC	GRCh37
NC_000019.8:g.43769678_43769679delinsGC	NCBI36
NG_008866.1:g.158499_158500delinsGC , LRG_766:g.158499_158500delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+622_1957+623delinsGC
ENST00000688602.1:c.3355-127_3355-126delinsGC
ENST00000689936.1:c.3327-127_3327-126delinsGC
ENST00000692547.1:n.415-127_415-126delinsGC
ENST00000359596.8:c.15022-127_15022-126delinsGC MANE Select	ENSP00000352608.2:n.15022-127_15022-126delinsGC
ENST00000355481.8:c.15007-127_15007-126delinsGC	ENSP00000347667.3:n.15007-127_15007-126delinsGC
ENST00000359596.7:c.15022-127_15022-126delinsGC	ENSP00000352608.2:n.15022-127_15022-126delinsGC
ENST00000360985.7:c.15004-127_15004-126delinsGC	ENSP00000354254.4:n.15004-127_15004-126delinsGC
NM_000540.2:c.15022-127_15022-126delinsGC , LRG_766t1:c.15022-127_15022-126delinsGC	NP_000531.2:n.15022-127_15022-126delinsGC
NM_001042723.1:c.15007-127_15007-126delinsGC	NP_001036188.1:n.15007-127_15007-126delinsGC
XM_006723317.1:c.15004-127_15004-126delinsGC	XP_006723380.1:n.15004-127_15004-126delinsGC
XM_006723319.1:c.14989-127_14989-126delinsGC	XP_006723382.1:n.14989-127_14989-126delinsGC
XM_011527204.1:c.15019-127_15019-126delinsGC	XP_011525506.1:n.15019-127_15019-126delinsGC
XM_011527205.1:c.14935-127_14935-126delinsGC	XP_011525507.1:n.14935-127_14935-126delinsGC
XM_006723317.2:c.15004-127_15004-126delinsGC	XP_006723380.1:n.15004-127_15004-126delinsGC
XM_006723319.2:c.14989-127_14989-126delinsGC	XP_006723382.1:n.14989-127_14989-126delinsGC
XM_011527205.2:c.14935-127_14935-126delinsGC	XP_011525507.1:n.14935-127_14935-126delinsGC
NM_000540.3:c.15022-127_15022-126delinsGC MANE Select	NP_000531.2:n.15022-127_15022-126delinsGC
NM_001042723.2:c.15007-127_15007-126delinsGC	NP_001036188.1:n.15007-127_15007-126delinsGC