Canonical Allele Identifier: CA2335095606

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586218_38586220delinsAGG , CM000681.2:g.38586218_38586220delinsAGG	GRCh38
NC_000019.9:g.39076858_39076860delinsAGG , CM000681.1:g.39076858_39076860delinsAGG	GRCh37
NC_000019.8:g.43768698_43768700delinsAGG	NCBI36
NG_008866.1:g.157519_157521delinsAGG , LRG_766:g.157519_157521delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1905+27_1905+29delinsAGG
ENST00000688602.1:c.3302+27_3302+29delinsAGG
ENST00000689936.1:c.3274+27_3274+29delinsAGG
ENST00000692547.1:n.362+27_362+29delinsAGG
ENST00000359596.8:c.14969+27_14969+29delinsAGG MANE Select	ENSP00000352608.2:n.14969+27_14969+29delinsAGG
ENST00000355481.8:c.14954+27_14954+29delinsAGG	ENSP00000347667.3:n.14954+27_14954+29delinsAGG
ENST00000359596.7:c.14969+27_14969+29delinsAGG	ENSP00000352608.2:n.14969+27_14969+29delinsAGG
ENST00000360985.7:c.14951+27_14951+29delinsAGG	ENSP00000354254.4:n.14951+27_14951+29delinsAGG
NM_000540.2:c.14969+27_14969+29delinsAGG , LRG_766t1:c.14969+27_14969+29delinsAGG	NP_000531.2:n.14969+27_14969+29delinsAGG
NM_001042723.1:c.14954+27_14954+29delinsAGG	NP_001036188.1:n.14954+27_14954+29delinsAGG
XM_006723317.1:c.14951+27_14951+29delinsAGG	XP_006723380.1:n.14951+27_14951+29delinsAGG
XM_006723319.1:c.14936+27_14936+29delinsAGG	XP_006723382.1:n.14936+27_14936+29delinsAGG
XM_011527204.1:c.14966+27_14966+29delinsAGG	XP_011525506.1:n.14966+27_14966+29delinsAGG
XM_011527205.1:c.14882+27_14882+29delinsAGG	XP_011525507.1:n.14882+27_14882+29delinsAGG
XM_006723317.2:c.14951+27_14951+29delinsAGG	XP_006723380.1:n.14951+27_14951+29delinsAGG
XM_006723319.2:c.14936+27_14936+29delinsAGG	XP_006723382.1:n.14936+27_14936+29delinsAGG
XM_011527205.2:c.14882+27_14882+29delinsAGG	XP_011525507.1:n.14882+27_14882+29delinsAGG
NM_000540.3:c.14969+27_14969+29delinsAGG MANE Select	NP_000531.2:n.14969+27_14969+29delinsAGG
NM_001042723.2:c.14954+27_14954+29delinsAGG	NP_001036188.1:n.14954+27_14954+29delinsAGG