Canonical Allele Identifier: CA2335054567

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502774_38502791delinsCAGGGGCAGGGGCAGGGG , CM000681.2:g.38502774_38502791delinsCAGGGGCAGGGGCAGGGG	GRCh38
NC_000019.9:g.38993414_38993431delinsCAGGGGCAGGGGCAGGGG , CM000681.1:g.38993414_38993431delinsCAGGGGCAGGGGCAGGGG	GRCh37
NC_000019.8:g.43685254_43685271delinsCAGGGGCAGGGGCAGGGG	NCBI36
NG_008866.1:g.74075_74092delinsCAGGGGCAGGGGCAGGGG , LRG_766:g.74075_74092delinsCAGGGGCAGGGGCAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	ENSP00000471601.2:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
ENST00000359596.8:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG MANE Select	ENSP00000352608.2:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
ENST00000355481.8:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	ENSP00000347667.3:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
ENST00000359596.7:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	ENSP00000352608.2:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
ENST00000360985.7:c.7832+47_7832+64delinsCAGGGGCAGGGGCAGGGG	ENSP00000354254.4:n.7832+47_7832+64delinsCAGGGGCAGGGGCAGGGG
ENST00000594335.5:c.1287+47_1287+64delinsCAGGGGCAGGGGCAGGGG
NM_000540.2:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG , LRG_766t1:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	NP_000531.2:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
NM_001042723.1:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	NP_001036188.1:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
XM_006723317.1:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	XP_006723380.1:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
XM_006723319.1:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	XP_006723382.1:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
XM_011527204.1:c.7832+47_7832+64delinsCAGGGGCAGGGGCAGGGG	XP_011525506.1:n.7832+47_7832+64delinsCAGGGGCAGGGGCAGGGG
XM_011527205.1:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	XP_011525507.1:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
XM_006723317.2:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	XP_006723380.1:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
XM_006723319.2:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	XP_006723382.1:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
XM_011527205.2:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	XP_011525507.1:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
XR_001753735.1:n.7918+47_7918+64delinsCAGGGGCAGGGGCAGGGG
NM_000540.3:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG MANE Select	NP_000531.2:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG
NM_001042723.2:c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG	NP_001036188.1:n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG