Canonical Allele Identifier: CA2335053278

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38500479_38500481delinsACT , CM000681.2:g.38500479_38500481delinsACT	GRCh38
NC_000019.9:g.38991119_38991121delinsACT , CM000681.1:g.38991119_38991121delinsACT	GRCh37
NC_000019.8:g.43682959_43682961delinsACT	NCBI36
NG_008866.1:g.71780_71782delinsACT , LRG_766:g.71780_71782delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7324-127_7324-125delinsACT	ENSP00000471601.2:n.7324-127_7324-125delinsACT
ENST00000359596.8:c.7324-127_7324-125delinsACT MANE Select	ENSP00000352608.2:n.7324-127_7324-125delinsACT
ENST00000355481.8:c.7324-127_7324-125delinsACT	ENSP00000347667.3:n.7324-127_7324-125delinsACT
ENST00000359596.7:c.7324-127_7324-125delinsACT	ENSP00000352608.2:n.7324-127_7324-125delinsACT
ENST00000360985.7:c.7321-127_7321-125delinsACT	ENSP00000354254.4:n.7321-127_7321-125delinsACT
ENST00000594335.5:c.776-127_776-125delinsACT
NM_000540.2:c.7324-127_7324-125delinsACT , LRG_766t1:c.7324-127_7324-125delinsACT	NP_000531.2:n.7324-127_7324-125delinsACT
NM_001042723.1:c.7324-127_7324-125delinsACT	NP_001036188.1:n.7324-127_7324-125delinsACT
XM_006723317.1:c.7324-127_7324-125delinsACT	XP_006723380.1:n.7324-127_7324-125delinsACT
XM_006723319.1:c.7324-127_7324-125delinsACT	XP_006723382.1:n.7324-127_7324-125delinsACT
XM_011527204.1:c.7321-127_7321-125delinsACT	XP_011525506.1:n.7321-127_7321-125delinsACT
XM_011527205.1:c.7324-127_7324-125delinsACT	XP_011525507.1:n.7324-127_7324-125delinsACT
XM_006723317.2:c.7324-127_7324-125delinsACT	XP_006723380.1:n.7324-127_7324-125delinsACT
XM_006723319.2:c.7324-127_7324-125delinsACT	XP_006723382.1:n.7324-127_7324-125delinsACT
XM_011527205.2:c.7324-127_7324-125delinsACT	XP_011525507.1:n.7324-127_7324-125delinsACT
XR_001753735.1:n.7407-127_7407-125delinsACT
NM_000540.3:c.7324-127_7324-125delinsACT MANE Select	NP_000531.2:n.7324-127_7324-125delinsACT
NM_001042723.2:c.7324-127_7324-125delinsACT	NP_001036188.1:n.7324-127_7324-125delinsACT