Canonical Allele Identifier: CA2335054966

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38503107_38503108delinsGA , CM000681.2:g.38503107_38503108delinsGA	GRCh38
NC_000019.9:g.38993747_38993748delinsGA , CM000681.1:g.38993747_38993748delinsGA	GRCh37
NC_000019.8:g.43685587_43685588delinsGA	NCBI36
NG_008866.1:g.74408_74409delinsGA , LRG_766:g.74408_74409delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7926+137_7926+138delinsGA	ENSP00000471601.2:n.7926+137_7926+138delinsGA
ENST00000359596.8:c.7926+137_7926+138delinsGA MANE Select	ENSP00000352608.2:n.7926+137_7926+138delinsGA
ENST00000355481.8:c.7926+137_7926+138delinsGA	ENSP00000347667.3:n.7926+137_7926+138delinsGA
ENST00000359596.7:c.7926+137_7926+138delinsGA	ENSP00000352608.2:n.7926+137_7926+138delinsGA
ENST00000360985.7:c.7923+137_7923+138delinsGA	ENSP00000354254.4:n.7923+137_7923+138delinsGA
ENST00000594335.5:c.1378+137_1378+138delinsGA
NM_000540.2:c.7926+137_7926+138delinsGA , LRG_766t1:c.7926+137_7926+138delinsGA	NP_000531.2:n.7926+137_7926+138delinsGA
NM_001042723.1:c.7926+137_7926+138delinsGA	NP_001036188.1:n.7926+137_7926+138delinsGA
XM_006723317.1:c.7926+137_7926+138delinsGA	XP_006723380.1:n.7926+137_7926+138delinsGA
XM_006723319.1:c.7926+137_7926+138delinsGA	XP_006723382.1:n.7926+137_7926+138delinsGA
XM_011527204.1:c.7923+137_7923+138delinsGA	XP_011525506.1:n.7923+137_7923+138delinsGA
XM_011527205.1:c.7926+137_7926+138delinsGA	XP_011525507.1:n.7926+137_7926+138delinsGA
XM_006723317.2:c.7926+137_7926+138delinsGA	XP_006723380.1:n.7926+137_7926+138delinsGA
XM_006723319.2:c.7926+137_7926+138delinsGA	XP_006723382.1:n.7926+137_7926+138delinsGA
XM_011527205.2:c.7926+137_7926+138delinsGA	XP_011525507.1:n.7926+137_7926+138delinsGA
XR_001753735.1:n.8009+137_8009+138delinsGA
NM_000540.3:c.7926+137_7926+138delinsGA MANE Select	NP_000531.2:n.7926+137_7926+138delinsGA
NM_001042723.2:c.7926+137_7926+138delinsGA	NP_001036188.1:n.7926+137_7926+138delinsGA