Canonical Allele Identifier: CA2335051036

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496028_38496029delinsGC , CM000681.2:g.38496028_38496029delinsGC	GRCh38
NC_000019.9:g.38986668_38986669delinsGC , CM000681.1:g.38986668_38986669delinsGC	GRCh37
NC_000019.8:g.43678508_43678509delinsGC	NCBI36
NG_008866.1:g.67329_67330delinsGC , LRG_766:g.67329_67330delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6549-187_6549-186delinsGC	ENSP00000471601.2:n.6549-187_6549-186delinsGC
ENST00000359596.8:c.6549-187_6549-186delinsGC MANE Select	ENSP00000352608.2:n.6549-187_6549-186delinsGC
ENST00000355481.8:c.6549-187_6549-186delinsGC	ENSP00000347667.3:n.6549-187_6549-186delinsGC
ENST00000359596.7:c.6549-187_6549-186delinsGC	ENSP00000352608.2:n.6549-187_6549-186delinsGC
ENST00000360985.7:c.6546-187_6546-186delinsGC	ENSP00000354254.4:n.6546-187_6546-186delinsGC
NM_000540.2:c.6549-187_6549-186delinsGC , LRG_766t1:c.6549-187_6549-186delinsGC	NP_000531.2:n.6549-187_6549-186delinsGC
NM_001042723.1:c.6549-187_6549-186delinsGC	NP_001036188.1:n.6549-187_6549-186delinsGC
XM_006723317.1:c.6549-187_6549-186delinsGC	XP_006723380.1:n.6549-187_6549-186delinsGC
XM_006723319.1:c.6549-187_6549-186delinsGC	XP_006723382.1:n.6549-187_6549-186delinsGC
XM_011527204.1:c.6546-187_6546-186delinsGC	XP_011525506.1:n.6546-187_6546-186delinsGC
XM_011527205.1:c.6549-187_6549-186delinsGC	XP_011525507.1:n.6549-187_6549-186delinsGC
XM_006723317.2:c.6549-187_6549-186delinsGC	XP_006723380.1:n.6549-187_6549-186delinsGC
XM_006723319.2:c.6549-187_6549-186delinsGC	XP_006723382.1:n.6549-187_6549-186delinsGC
XM_011527205.2:c.6549-187_6549-186delinsGC	XP_011525507.1:n.6549-187_6549-186delinsGC
XR_001753735.1:n.6632-187_6632-186delinsGC
NM_000540.3:c.6549-187_6549-186delinsGC MANE Select	NP_000531.2:n.6549-187_6549-186delinsGC
NM_001042723.2:c.6549-187_6549-186delinsGC	NP_001036188.1:n.6549-187_6549-186delinsGC