Canonical Allele Identifier: CA2335058972

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510934_38510935delinsGA , CM000681.2:g.38510934_38510935delinsGA	GRCh38
NC_000019.9:g.39001574_39001575delinsGA , CM000681.1:g.39001574_39001575delinsGA	GRCh37
NC_000019.8:g.43693414_43693415delinsGA	NCBI36
NG_008866.1:g.82235_82236delinsGA , LRG_766:g.82235_82236delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9122+153_9122+154delinsGA	ENSP00000471601.2:n.9122+153_9122+154delinsGA
ENST00000359596.8:c.9122+153_9122+154delinsGA MANE Select	ENSP00000352608.2:n.9122+153_9122+154delinsGA
ENST00000355481.8:c.9122+153_9122+154delinsGA	ENSP00000347667.3:n.9122+153_9122+154delinsGA
ENST00000359596.7:c.9122+153_9122+154delinsGA	ENSP00000352608.2:n.9122+153_9122+154delinsGA
ENST00000360985.7:c.9119+153_9119+154delinsGA	ENSP00000354254.4:n.9119+153_9119+154delinsGA
ENST00000594335.5:c.2574+153_2574+154delinsGA
NM_000540.2:c.9122+153_9122+154delinsGA , LRG_766t1:c.9122+153_9122+154delinsGA	NP_000531.2:n.9122+153_9122+154delinsGA
NM_001042723.1:c.9122+153_9122+154delinsGA	NP_001036188.1:n.9122+153_9122+154delinsGA
XM_006723317.1:c.9122+153_9122+154delinsGA	XP_006723380.1:n.9122+153_9122+154delinsGA
XM_006723319.1:c.9122+153_9122+154delinsGA	XP_006723382.1:n.9122+153_9122+154delinsGA
XM_011527204.1:c.9119+153_9119+154delinsGA	XP_011525506.1:n.9119+153_9119+154delinsGA
XM_011527205.1:c.9122+153_9122+154delinsGA	XP_011525507.1:n.9122+153_9122+154delinsGA
XM_006723317.2:c.9122+153_9122+154delinsGA	XP_006723380.1:n.9122+153_9122+154delinsGA
XM_006723319.2:c.9122+153_9122+154delinsGA	XP_006723382.1:n.9122+153_9122+154delinsGA
XM_011527205.2:c.9122+153_9122+154delinsGA	XP_011525507.1:n.9122+153_9122+154delinsGA
XR_001753735.1:n.9205+153_9205+154delinsGA
NM_000540.3:c.9122+153_9122+154delinsGA MANE Select	NP_000531.2:n.9122+153_9122+154delinsGA
NM_001042723.2:c.9122+153_9122+154delinsGA	NP_001036188.1:n.9122+153_9122+154delinsGA