Canonical Allele Identifier: CA2335096041

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587199_38587201delinsCTG , CM000681.2:g.38587199_38587201delinsCTG	GRCh38
NC_000019.9:g.39077839_39077841delinsCTG , CM000681.1:g.39077839_39077841delinsCTG	GRCh37
NC_000019.8:g.43769679_43769681delinsCTG	NCBI36
NG_008866.1:g.158500_158502delinsCTG , LRG_766:g.158500_158502delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+623_1957+625delinsCTG
ENST00000688602.1:c.3355-126_3355-124delinsCTG
ENST00000689936.1:c.3327-126_3327-124delinsCTG
ENST00000692547.1:n.415-126_415-124delinsCTG
ENST00000359596.8:c.15022-126_15022-124delinsCTG MANE Select	ENSP00000352608.2:n.15022-126_15022-124delinsCTG
ENST00000355481.8:c.15007-126_15007-124delinsCTG	ENSP00000347667.3:n.15007-126_15007-124delinsCTG
ENST00000359596.7:c.15022-126_15022-124delinsCTG	ENSP00000352608.2:n.15022-126_15022-124delinsCTG
ENST00000360985.7:c.15004-126_15004-124delinsCTG	ENSP00000354254.4:n.15004-126_15004-124delinsCTG
NM_000540.2:c.15022-126_15022-124delinsCTG , LRG_766t1:c.15022-126_15022-124delinsCTG	NP_000531.2:n.15022-126_15022-124delinsCTG
NM_001042723.1:c.15007-126_15007-124delinsCTG	NP_001036188.1:n.15007-126_15007-124delinsCTG
XM_006723317.1:c.15004-126_15004-124delinsCTG	XP_006723380.1:n.15004-126_15004-124delinsCTG
XM_006723319.1:c.14989-126_14989-124delinsCTG	XP_006723382.1:n.14989-126_14989-124delinsCTG
XM_011527204.1:c.15019-126_15019-124delinsCTG	XP_011525506.1:n.15019-126_15019-124delinsCTG
XM_011527205.1:c.14935-126_14935-124delinsCTG	XP_011525507.1:n.14935-126_14935-124delinsCTG
XM_006723317.2:c.15004-126_15004-124delinsCTG	XP_006723380.1:n.15004-126_15004-124delinsCTG
XM_006723319.2:c.14989-126_14989-124delinsCTG	XP_006723382.1:n.14989-126_14989-124delinsCTG
XM_011527205.2:c.14935-126_14935-124delinsCTG	XP_011525507.1:n.14935-126_14935-124delinsCTG
NM_000540.3:c.15022-126_15022-124delinsCTG MANE Select	NP_000531.2:n.15022-126_15022-124delinsCTG
NM_001042723.2:c.15007-126_15007-124delinsCTG	NP_001036188.1:n.15007-126_15007-124delinsCTG