Canonical Allele Identifier: CA2335052528

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38498990_38498997delinsGGATCAGA , CM000681.2:g.38498990_38498997delinsGGATCAGA	GRCh38
NC_000019.9:g.38989630_38989637delinsGGATCAGA , CM000681.1:g.38989630_38989637delinsGGATCAGA	GRCh37
NC_000019.8:g.43681470_43681477delinsGGATCAGA	NCBI36
NG_008866.1:g.70291_70298delinsGGATCAGA , LRG_766:g.70291_70298delinsGGATCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6892-118_6892-111delinsGGATCAGA	ENSP00000471601.2:n.6892-118_6892-111delinsGGATCAGA
ENST00000359596.8:c.6892-118_6892-111delinsGGATCAGA MANE Select	ENSP00000352608.2:n.6892-118_6892-111delinsGGATCAGA
ENST00000355481.8:c.6892-118_6892-111delinsGGATCAGA	ENSP00000347667.3:n.6892-118_6892-111delinsGGATCAGA
ENST00000359596.7:c.6892-118_6892-111delinsGGATCAGA	ENSP00000352608.2:n.6892-118_6892-111delinsGGATCAGA
ENST00000360985.7:c.6889-118_6889-111delinsGGATCAGA	ENSP00000354254.4:n.6889-118_6889-111delinsGGATCAGA
ENST00000594335.5:c.344-118_344-111delinsGGATCAGA
NM_000540.2:c.6892-118_6892-111delinsGGATCAGA , LRG_766t1:c.6892-118_6892-111delinsGGATCAGA	NP_000531.2:n.6892-118_6892-111delinsGGATCAGA
NM_001042723.1:c.6892-118_6892-111delinsGGATCAGA	NP_001036188.1:n.6892-118_6892-111delinsGGATCAGA
XM_006723317.1:c.6892-118_6892-111delinsGGATCAGA	XP_006723380.1:n.6892-118_6892-111delinsGGATCAGA
XM_006723319.1:c.6892-118_6892-111delinsGGATCAGA	XP_006723382.1:n.6892-118_6892-111delinsGGATCAGA
XM_011527204.1:c.6889-118_6889-111delinsGGATCAGA	XP_011525506.1:n.6889-118_6889-111delinsGGATCAGA
XM_011527205.1:c.6892-118_6892-111delinsGGATCAGA	XP_011525507.1:n.6892-118_6892-111delinsGGATCAGA
XM_006723317.2:c.6892-118_6892-111delinsGGATCAGA	XP_006723380.1:n.6892-118_6892-111delinsGGATCAGA
XM_006723319.2:c.6892-118_6892-111delinsGGATCAGA	XP_006723382.1:n.6892-118_6892-111delinsGGATCAGA
XM_011527205.2:c.6892-118_6892-111delinsGGATCAGA	XP_011525507.1:n.6892-118_6892-111delinsGGATCAGA
XR_001753735.1:n.6975-118_6975-111delinsGGATCAGA
NM_000540.3:c.6892-118_6892-111delinsGGATCAGA MANE Select	NP_000531.2:n.6892-118_6892-111delinsGGATCAGA
NM_001042723.2:c.6892-118_6892-111delinsGGATCAGA	NP_001036188.1:n.6892-118_6892-111delinsGGATCAGA