Canonical Allele Identifier: CA2335092524

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580514_38580515delinsTC , CM000681.2:g.38580514_38580515delinsTC	GRCh38
NC_000019.9:g.39071154_39071155delinsTC , CM000681.1:g.39071154_39071155delinsTC	GRCh37
NC_000019.8:g.43762994_43762995delinsTC	NCBI36
NG_008866.1:g.151815_151816delinsTC , LRG_766:g.151815_151816delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1582+10_1582+11delinsTC
ENST00000688602.1:c.2979+10_2979+11delinsTC
ENST00000689936.1:c.2951+10_2951+11delinsTC
ENST00000359596.8:c.14646+10_14646+11delinsTC MANE Select	ENSP00000352608.2:n.14646+10_14646+11delinsTC
ENST00000355481.8:c.14631+10_14631+11delinsTC	ENSP00000347667.3:n.14631+10_14631+11delinsTC
ENST00000359596.7:c.14646+10_14646+11delinsTC	ENSP00000352608.2:n.14646+10_14646+11delinsTC
ENST00000360985.7:c.14628+10_14628+11delinsTC	ENSP00000354254.4:n.14628+10_14628+11delinsTC
NM_000540.2:c.14646+10_14646+11delinsTC , LRG_766t1:c.14646+10_14646+11delinsTC	NP_000531.2:n.14646+10_14646+11delinsTC
NM_001042723.1:c.14631+10_14631+11delinsTC	NP_001036188.1:n.14631+10_14631+11delinsTC
XM_006723317.1:c.14628+10_14628+11delinsTC	XP_006723380.1:n.14628+10_14628+11delinsTC
XM_006723319.1:c.14613+10_14613+11delinsTC	XP_006723382.1:n.14613+10_14613+11delinsTC
XM_011527204.1:c.14643+10_14643+11delinsTC	XP_011525506.1:n.14643+10_14643+11delinsTC
XM_011527205.1:c.14559+10_14559+11delinsTC	XP_011525507.1:n.14559+10_14559+11delinsTC
XM_006723317.2:c.14628+10_14628+11delinsTC	XP_006723380.1:n.14628+10_14628+11delinsTC
XM_006723319.2:c.14613+10_14613+11delinsTC	XP_006723382.1:n.14613+10_14613+11delinsTC
XM_011527205.2:c.14559+10_14559+11delinsTC	XP_011525507.1:n.14559+10_14559+11delinsTC
NM_000540.3:c.14646+10_14646+11delinsTC MANE Select	NP_000531.2:n.14646+10_14646+11delinsTC
NM_001042723.2:c.14631+10_14631+11delinsTC	NP_001036188.1:n.14631+10_14631+11delinsTC