Canonical Allele Identifier: CA2335046089

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38485502_38485511delinsGATGAAGGAA , CM000681.2:g.38485502_38485511delinsGATGAAGGAA	GRCh38
NC_000019.9:g.38976142_38976151delinsGATGAAGGAA , CM000681.1:g.38976142_38976151delinsGATGAAGGAA	GRCh37
NC_000019.8:g.43667982_43667991delinsGATGAAGGAA	NCBI36
NG_008866.1:g.56803_56812delinsGATGAAGGAA , LRG_766:g.56803_56812delinsGATGAAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.4935-88_4935-79delinsGATGAAGGAA	ENSP00000471601.2:n.4935-88_4935-79delinsGATGAAGGAA
ENST00000359596.8:c.4935-88_4935-79delinsGATGAAGGAA MANE Select	ENSP00000352608.2:n.4935-88_4935-79delinsGATGAAGGAA
ENST00000355481.8:c.4935-88_4935-79delinsGATGAAGGAA	ENSP00000347667.3:n.4935-88_4935-79delinsGATGAAGGAA
ENST00000359596.7:c.4935-88_4935-79delinsGATGAAGGAA	ENSP00000352608.2:n.4935-88_4935-79delinsGATGAAGGAA
ENST00000360985.7:c.4932-88_4932-79delinsGATGAAGGAA	ENSP00000354254.4:n.4932-88_4932-79delinsGATGAAGGAA
NM_000540.2:c.4935-88_4935-79delinsGATGAAGGAA , LRG_766t1:c.4935-88_4935-79delinsGATGAAGGAA	NP_000531.2:n.4935-88_4935-79delinsGATGAAGGAA
NM_001042723.1:c.4935-88_4935-79delinsGATGAAGGAA	NP_001036188.1:n.4935-88_4935-79delinsGATGAAGGAA
XM_006723317.1:c.4935-88_4935-79delinsGATGAAGGAA	XP_006723380.1:n.4935-88_4935-79delinsGATGAAGGAA
XM_006723319.1:c.4935-88_4935-79delinsGATGAAGGAA	XP_006723382.1:n.4935-88_4935-79delinsGATGAAGGAA
XM_011527204.1:c.4932-88_4932-79delinsGATGAAGGAA	XP_011525506.1:n.4932-88_4932-79delinsGATGAAGGAA
XM_011527205.1:c.4935-88_4935-79delinsGATGAAGGAA	XP_011525507.1:n.4935-88_4935-79delinsGATGAAGGAA
XM_006723317.2:c.4935-88_4935-79delinsGATGAAGGAA	XP_006723380.1:n.4935-88_4935-79delinsGATGAAGGAA
XM_006723319.2:c.4935-88_4935-79delinsGATGAAGGAA	XP_006723382.1:n.4935-88_4935-79delinsGATGAAGGAA
XM_011527205.2:c.4935-88_4935-79delinsGATGAAGGAA	XP_011525507.1:n.4935-88_4935-79delinsGATGAAGGAA
XR_001753735.1:n.5018-88_5018-79delinsGATGAAGGAA
NM_000540.3:c.4935-88_4935-79delinsGATGAAGGAA MANE Select	NP_000531.2:n.4935-88_4935-79delinsGATGAAGGAA
NM_001042723.2:c.4935-88_4935-79delinsGATGAAGGAA	NP_001036188.1:n.4935-88_4935-79delinsGATGAAGGAA