Canonical Allele Identifier: CA2335094986

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585055_38585058delinsCCTT , CM000681.2:g.38585055_38585058delinsCCTT	GRCh38
NC_000019.9:g.39075695_39075698delinsCCTT , CM000681.1:g.39075695_39075698delinsCCTT	GRCh37
NC_000019.8:g.43767535_43767538delinsCCTT	NCBI36
NG_008866.1:g.156356_156359delinsCCTT , LRG_766:g.156356_156359delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1695_1698delinsCCTT
ENST00000688602.1:c.3092_3095delinsCCTT
ENST00000689936.1:c.3064_3067delinsCCTT
ENST00000692547.1:n.152_155delinsCCTT
ENST00000359596.8:c.14759_14762delinsCCTT MANE Select	ENSP00000352608.2:p.Thr4920=
ENST00000355481.8:c.14744_14747delinsCCTT	ENSP00000347667.3:p.Thr4915=
ENST00000359596.7:c.14759_14762delinsCCTT	ENSP00000352608.2:p.Thr4920=
ENST00000360985.7:c.14741_14744delinsCCTT	ENSP00000354254.4:p.Thr4914=
NM_000540.2:c.14759_14762delinsCCTT , LRG_766t1:c.14759_14762delinsCCTT	NP_000531.2:p.Thr4920=
NM_001042723.1:c.14744_14747delinsCCTT	NP_001036188.1:p.Thr4915=
XM_006723317.1:c.14741_14744delinsCCTT	XP_006723380.1:p.Thr4914=
XM_006723319.1:c.14726_14729delinsCCTT	XP_006723382.1:p.Thr4909=
XM_011527204.1:c.14756_14759delinsCCTT	XP_011525506.1:p.Thr4919=
XM_011527205.1:c.14672_14675delinsCCTT	XP_011525507.1:p.Thr4891=
XM_006723317.2:c.14741_14744delinsCCTT	XP_006723380.1:p.Thr4914=
XM_006723319.2:c.14726_14729delinsCCTT	XP_006723382.1:p.Thr4909=
XM_011527205.2:c.14672_14675delinsCCTT	XP_011525507.1:p.Thr4891=
NM_000540.3:c.14759_14762delinsCCTT MANE Select	NP_000531.2:p.Thr4920=
NM_001042723.2:c.14744_14747delinsCCTT	NP_001036188.1:p.Thr4915=