Canonical Allele Identifier: CA2335074319

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543391_38543392delinsAT , CM000681.2:g.38543391_38543392delinsAT	GRCh38
NC_000019.9:g.39034031_39034032delinsAT , CM000681.1:g.39034031_39034032delinsAT	GRCh37
NC_000019.8:g.43725871_43725872delinsAT	NCBI36
NG_008866.1:g.114692_114693delinsAT , LRG_766:g.114692_114693delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.144_145delinsAT
ENST00000689936.1:c.126_127delinsAT
ENST00000359596.8:c.11734_11735delinsAT MANE Select	ENSP00000352608.2:p.Ile3912=
ENST00000355481.8:c.11719_11720delinsAT	ENSP00000347667.3:p.Ile3907=
ENST00000359596.7:c.11734_11735delinsAT	ENSP00000352608.2:p.Ile3912=
ENST00000360985.7:c.11716_11717delinsAT	ENSP00000354254.4:p.Ile3906=
ENST00000593322.1:c.343_344delinsAT
ENST00000594335.5:c.5103_5104delinsAT
NM_000540.2:c.11734_11735delinsAT , LRG_766t1:c.11734_11735delinsAT	NP_000531.2:p.Ile3912=
NM_001042723.1:c.11719_11720delinsAT	NP_001036188.1:p.Ile3907=
XM_006723317.1:c.11716_11717delinsAT	XP_006723380.1:p.Ile3906=
XM_006723319.1:c.11701_11702delinsAT	XP_006723382.1:p.Ile3901=
XM_011527204.1:c.11731_11732delinsAT	XP_011525506.1:p.Ile3911=
XM_011527205.1:c.11734_11735delinsAT	XP_011525507.1:p.Ile3912=
XM_006723317.2:c.11716_11717delinsAT	XP_006723380.1:p.Ile3906=
XM_006723319.2:c.11701_11702delinsAT	XP_006723382.1:p.Ile3901=
XM_011527205.2:c.11734_11735delinsAT	XP_011525507.1:p.Ile3912=
NM_000540.3:c.11734_11735delinsAT MANE Select	NP_000531.2:p.Ile3912=
NM_001042723.2:c.11719_11720delinsAT	NP_001036188.1:p.Ile3907=