Canonical Allele Identifier: CA2814346628

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586198_38586199insCCC , CM000681.2:g.38586198_38586199insCCC	GRCh38
NC_000019.9:g.39076838_39076839insCCC , CM000681.1:g.39076838_39076839insCCC	GRCh37
NC_000019.8:g.43768678_43768679insCCC	NCBI36
NG_008866.1:g.157499_157500insCCC , LRG_766:g.157499_157500insCCC

Transcript Alleles

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