Canonical Allele Identifier: CA2335088507

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572319_38572322delinsGGGT , CM000681.2:g.38572319_38572322delinsGGGT	GRCh38
NC_000019.9:g.39062959_39062962delinsGGGT , CM000681.1:g.39062959_39062962delinsGGGT	GRCh37
NC_000019.8:g.43754799_43754802delinsGGGT	NCBI36
NG_008866.1:g.143620_143623delinsGGGT , LRG_766:g.143620_143623delinsGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+49_934+52delinsGGGT
ENST00000688602.1:c.2331+49_2331+52delinsGGGT
ENST00000689936.1:c.2303+49_2303+52delinsGGGT
ENST00000359596.8:c.13998+49_13998+52delinsGGGT MANE Select	ENSP00000352608.2:n.13998+49_13998+52delinsGGGT
ENST00000355481.8:c.13983+49_13983+52delinsGGGT	ENSP00000347667.3:n.13983+49_13983+52delinsGGGT
ENST00000359596.7:c.13998+49_13998+52delinsGGGT	ENSP00000352608.2:n.13998+49_13998+52delinsGGGT
ENST00000360985.7:c.13980+49_13980+52delinsGGGT	ENSP00000354254.4:n.13980+49_13980+52delinsGGGT
NM_000540.2:c.13998+49_13998+52delinsGGGT , LRG_766t1:c.13998+49_13998+52delinsGGGT	NP_000531.2:n.13998+49_13998+52delinsGGGT
NM_001042723.1:c.13983+49_13983+52delinsGGGT	NP_001036188.1:n.13983+49_13983+52delinsGGGT
XM_006723317.1:c.13980+49_13980+52delinsGGGT	XP_006723380.1:n.13980+49_13980+52delinsGGGT
XM_006723319.1:c.13965+49_13965+52delinsGGGT	XP_006723382.1:n.13965+49_13965+52delinsGGGT
XM_011527204.1:c.13995+49_13995+52delinsGGGT	XP_011525506.1:n.13995+49_13995+52delinsGGGT
XM_011527205.1:c.13911+49_13911+52delinsGGGT	XP_011525507.1:n.13911+49_13911+52delinsGGGT
XM_006723317.2:c.13980+49_13980+52delinsGGGT	XP_006723380.1:n.13980+49_13980+52delinsGGGT
XM_006723319.2:c.13965+49_13965+52delinsGGGT	XP_006723382.1:n.13965+49_13965+52delinsGGGT
XM_011527205.2:c.13911+49_13911+52delinsGGGT	XP_011525507.1:n.13911+49_13911+52delinsGGGT
NM_000540.3:c.13998+49_13998+52delinsGGGT MANE Select	NP_000531.2:n.13998+49_13998+52delinsGGGT
NM_001042723.2:c.13983+49_13983+52delinsGGGT	NP_001036188.1:n.13983+49_13983+52delinsGGGT