Canonical Allele Identifier: CA2335084655

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565126_38565141delinsCGCGGGCGCGGCGGAG , CM000681.2:g.38565126_38565141delinsCGCGGGCGCGGCGGAG	GRCh38
NC_000019.9:g.39055766_39055781delinsCGCGGGCGCGGCGGAG , CM000681.1:g.39055766_39055781delinsCGCGGGCGCGGCGGAG	GRCh37
NC_000019.8:g.43747606_43747621delinsCGCGGGCGCGGCGGAG	NCBI36
NG_008866.1:g.136427_136442delinsCGCGGGCGCGGCGGAG , LRG_766:g.136427_136442delinsCGCGGGCGCGGCGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1202_1217delinsCGCGGGCGCGGCGGAG
ENST00000689936.1:c.1184_1199delinsCGCGGGCGCGGCGGAG
ENST00000359596.8:c.12792_12807delinsCGCGGGCGCGGCGGAG MANE Select	ENSP00000352608.2:p.Gly4264=
ENST00000355481.8:c.12777_12792delinsCGCGGGCGCGGCGGAG	ENSP00000347667.3:p.Gly4259=
ENST00000359596.7:c.12792_12807delinsCGCGGGCGCGGCGGAG	ENSP00000352608.2:p.Gly4264=
ENST00000360985.7:c.12774_12789delinsCGCGGGCGCGGCGGAG	ENSP00000354254.4:p.Gly4258=
ENST00000594335.5:c.6161_6176delinsCGCGGGCGCGGCGGAG
NM_000540.2:c.12792_12807delinsCGCGGGCGCGGCGGAG , LRG_766t1:c.12792_12807delinsCGCGGGCGCGGCGGAG	NP_000531.2:p.Gly4264=
NM_001042723.1:c.12777_12792delinsCGCGGGCGCGGCGGAG	NP_001036188.1:p.Gly4259=
XM_006723317.1:c.12774_12789delinsCGCGGGCGCGGCGGAG	XP_006723380.1:p.Gly4258=
XM_006723319.1:c.12759_12774delinsCGCGGGCGCGGCGGAG	XP_006723382.1:p.Gly4253=
XM_011527204.1:c.12789_12804delinsCGCGGGCGCGGCGGAG	XP_011525506.1:p.Gly4263=
XM_011527205.1:c.12792_12807delinsCGCGGGCGCGGCGGAG	XP_011525507.1:p.Gly4264=
XM_006723317.2:c.12774_12789delinsCGCGGGCGCGGCGGAG	XP_006723380.1:p.Gly4258=
XM_006723319.2:c.12759_12774delinsCGCGGGCGCGGCGGAG	XP_006723382.1:p.Gly4253=
XM_011527205.2:c.12792_12807delinsCGCGGGCGCGGCGGAG	XP_011525507.1:p.Gly4264=
NM_000540.3:c.12792_12807delinsCGCGGGCGCGGCGGAG MANE Select	NP_000531.2:p.Gly4264=
NM_001042723.2:c.12777_12792delinsCGCGGGCGCGGCGGAG	NP_001036188.1:p.Gly4259=