Canonical Allele Identifier: CA2584900783

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502787-A-AGGGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502792_38502793insCGGGGC , CM000681.2:g.38502792_38502793insCGGGGC	GRCh38
NC_000019.9:g.38993432_38993433insCGGGGC , CM000681.1:g.38993432_38993433insCGGGGC	GRCh37
NC_000019.8:g.43685272_43685273insCGGGGC	NCBI36
NG_008866.1:g.74093_74094insCGGGGC , LRG_766:g.74093_74094insCGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+65_7835+66insCGGGGC	ENSP00000471601.2:n.7835+65_7835+66insCGGGGC
ENST00000359596.8:c.7835+65_7835+66insCGGGGC MANE Select	ENSP00000352608.2:n.7835+65_7835+66insCGGGGC
ENST00000355481.8:c.7835+65_7835+66insCGGGGC	ENSP00000347667.3:n.7835+65_7835+66insCGGGGC
ENST00000359596.7:c.7835+65_7835+66insCGGGGC	ENSP00000352608.2:n.7835+65_7835+66insCGGGGC
ENST00000360985.7:c.7832+65_7832+66insCGGGGC	ENSP00000354254.4:n.7832+65_7832+66insCGGGGC
ENST00000594335.5:c.1287+65_1287+66insCGGGGC
NM_000540.2:c.7835+65_7835+66insCGGGGC , LRG_766t1:c.7835+65_7835+66insCGGGGC	NP_000531.2:n.7835+65_7835+66insCGGGGC
NM_001042723.1:c.7835+65_7835+66insCGGGGC	NP_001036188.1:n.7835+65_7835+66insCGGGGC
XM_006723317.1:c.7835+65_7835+66insCGGGGC	XP_006723380.1:n.7835+65_7835+66insCGGGGC
XM_006723319.1:c.7835+65_7835+66insCGGGGC	XP_006723382.1:n.7835+65_7835+66insCGGGGC
XM_011527204.1:c.7832+65_7832+66insCGGGGC	XP_011525506.1:n.7832+65_7832+66insCGGGGC
XM_011527205.1:c.7835+65_7835+66insCGGGGC	XP_011525507.1:n.7835+65_7835+66insCGGGGC
XM_006723317.2:c.7835+65_7835+66insCGGGGC	XP_006723380.1:n.7835+65_7835+66insCGGGGC
XM_006723319.2:c.7835+65_7835+66insCGGGGC	XP_006723382.1:n.7835+65_7835+66insCGGGGC
XM_011527205.2:c.7835+65_7835+66insCGGGGC	XP_011525507.1:n.7835+65_7835+66insCGGGGC
XR_001753735.1:n.7918+65_7918+66insCGGGGC
NM_000540.3:c.7835+65_7835+66insCGGGGC MANE Select	NP_000531.2:n.7835+65_7835+66insCGGGGC
NM_001042723.2:c.7835+65_7835+66insCGGGGC	NP_001036188.1:n.7835+65_7835+66insCGGGGC