Canonical Allele Identifier: CA2335092428

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580342_38580343delinsAG , CM000681.2:g.38580342_38580343delinsAG	GRCh38
NC_000019.9:g.39070982_39070983delinsAG , CM000681.1:g.39070982_39070983delinsAG	GRCh37
NC_000019.8:g.43762822_43762823delinsAG	NCBI36
NG_008866.1:g.151643_151644delinsAG , LRG_766:g.151643_151644delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1448-28_1448-27delinsAG
ENST00000688602.1:c.2845-28_2845-27delinsAG
ENST00000689936.1:c.2817-28_2817-27delinsAG
ENST00000359596.8:c.14512-28_14512-27delinsAG MANE Select	ENSP00000352608.2:n.14512-28_14512-27deli...
ENST00000355481.8:c.14497-28_14497-27delinsAG	ENSP00000347667.3:n.14497-28_14497-27deli...
ENST00000359596.7:c.14512-28_14512-27delinsAG	ENSP00000352608.2:n.14512-28_14512-27deli...
ENST00000360985.7:c.14494-28_14494-27delinsAG	ENSP00000354254.4:n.14494-28_14494-27deli...
NM_000540.2:c.14512-28_14512-27delinsAG , LRG_766t1:c.14512-28_14512-27delinsAG	NP_000531.2:n.14512-28_14512-27delinsAG
NM_001042723.1:c.14497-28_14497-27delinsAG	NP_001036188.1:n.14497-28_14497-27delinsA...
XM_006723317.1:c.14494-28_14494-27delinsAG	XP_006723380.1:n.14494-28_14494-27delinsA...
XM_006723319.1:c.14479-28_14479-27delinsAG	XP_006723382.1:n.14479-28_14479-27delinsA...
XM_011527204.1:c.14509-28_14509-27delinsAG	XP_011525506.1:n.14509-28_14509-27delinsA...
XM_011527205.1:c.14425-28_14425-27delinsAG	XP_011525507.1:n.14425-28_14425-27delinsA...
XM_006723317.2:c.14494-28_14494-27delinsAG	XP_006723380.1:n.14494-28_14494-27delinsA...
XM_006723319.2:c.14479-28_14479-27delinsAG	XP_006723382.1:n.14479-28_14479-27delinsA...
XM_011527205.2:c.14425-28_14425-27delinsAG	XP_011525507.1:n.14425-28_14425-27delinsA...
NM_000540.3:c.14512-28_14512-27delinsAG MANE Select	NP_000531.2:n.14512-28_14512-27delinsAG
NM_001042723.2:c.14497-28_14497-27delinsAG	NP_001036188.1:n.14497-28_14497-27delinsA...