Canonical Allele Identifier: CA2335058927

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510819_38510821delinsTCA , CM000681.2:g.38510819_38510821delinsTCA	GRCh38
NC_000019.9:g.39001459_39001461delinsTCA , CM000681.1:g.39001459_39001461delinsTCA	GRCh37
NC_000019.8:g.43693299_43693301delinsTCA	NCBI36
NG_008866.1:g.82120_82122delinsTCA , LRG_766:g.82120_82122delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9122+38_9122+40delinsTCA	ENSP00000471601.2:n.9122+38_9122+40delinsTCA
ENST00000359596.8:c.9122+38_9122+40delinsTCA MANE Select	ENSP00000352608.2:n.9122+38_9122+40delinsTCA
ENST00000355481.8:c.9122+38_9122+40delinsTCA	ENSP00000347667.3:n.9122+38_9122+40delinsTCA
ENST00000359596.7:c.9122+38_9122+40delinsTCA	ENSP00000352608.2:n.9122+38_9122+40delinsTCA
ENST00000360985.7:c.9119+38_9119+40delinsTCA	ENSP00000354254.4:n.9119+38_9119+40delinsTCA
ENST00000594335.5:c.2574+38_2574+40delinsTCA
NM_000540.2:c.9122+38_9122+40delinsTCA , LRG_766t1:c.9122+38_9122+40delinsTCA	NP_000531.2:n.9122+38_9122+40delinsTCA
NM_001042723.1:c.9122+38_9122+40delinsTCA	NP_001036188.1:n.9122+38_9122+40delinsTCA
XM_006723317.1:c.9122+38_9122+40delinsTCA	XP_006723380.1:n.9122+38_9122+40delinsTCA
XM_006723319.1:c.9122+38_9122+40delinsTCA	XP_006723382.1:n.9122+38_9122+40delinsTCA
XM_011527204.1:c.9119+38_9119+40delinsTCA	XP_011525506.1:n.9119+38_9119+40delinsTCA
XM_011527205.1:c.9122+38_9122+40delinsTCA	XP_011525507.1:n.9122+38_9122+40delinsTCA
XM_006723317.2:c.9122+38_9122+40delinsTCA	XP_006723380.1:n.9122+38_9122+40delinsTCA
XM_006723319.2:c.9122+38_9122+40delinsTCA	XP_006723382.1:n.9122+38_9122+40delinsTCA
XM_011527205.2:c.9122+38_9122+40delinsTCA	XP_011525507.1:n.9122+38_9122+40delinsTCA
XR_001753735.1:n.9205+38_9205+40delinsTCA
NM_000540.3:c.9122+38_9122+40delinsTCA MANE Select	NP_000531.2:n.9122+38_9122+40delinsTCA
NM_001042723.2:c.9122+38_9122+40delinsTCA	NP_001036188.1:n.9122+38_9122+40delinsTCA