Canonical Allele Identifier: CA2335027353

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38447050_38447068delinsAAAATAAAATAAATAAAAT , CM000681.2:g.38447050_38447068delinsAAAATAAAATAAATAAAAT	GRCh38
NC_000019.9:g.38937690_38937708delinsAAAATAAAATAAATAAAAT , CM000681.1:g.38937690_38937708delinsAAAATAAAATAAATAAAAT	GRCh37
NC_000019.8:g.43629530_43629548delinsAAAATAAAATAAATAAAAT	NCBI36
NG_008866.1:g.18351_18369delinsAAAATAAAATAAATAAAAT , LRG_766:g.18351_18369delinsAAAATAAAATAAATAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	ENSP00000471601.2:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
ENST00000359596.8:c.800+282_800+300delinsAAAATAAAATAAATAAAAT MANE Select	ENSP00000352608.2:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
ENST00000355481.8:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	ENSP00000347667.3:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
ENST00000359596.7:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	ENSP00000352608.2:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
ENST00000360985.7:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	ENSP00000354254.4:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
NM_000540.2:c.800+282_800+300delinsAAAATAAAATAAATAAAAT , LRG_766t1:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	NP_000531.2:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
NM_001042723.1:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	NP_001036188.1:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
XM_006723317.1:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	XP_006723380.1:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
XM_006723319.1:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	XP_006723382.1:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
XM_011527204.1:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	XP_011525506.1:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
XM_011527205.1:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	XP_011525507.1:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
XM_006723317.2:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	XP_006723380.1:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
XM_006723319.2:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	XP_006723382.1:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
XM_011527205.2:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	XP_011525507.1:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
XR_001753735.1:n.883+282_883+300delinsAAAATAAAATAAATAAAAT
NM_000540.3:c.800+282_800+300delinsAAAATAAAATAAATAAAAT MANE Select	NP_000531.2:n.800+282_800+300delinsAAAATAAAATAAATAAAAT
NM_001042723.2:c.800+282_800+300delinsAAAATAAAATAAATAAAAT	NP_001036188.1:n.800+282_800+300delinsAAAATAAAATAAATAAAAT