Canonical Allele Identifier: CA2335053326

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38500592_38500596delinsCCTCT , CM000681.2:g.38500592_38500596delinsCCTCT	GRCh38
NC_000019.9:g.38991232_38991236delinsCCTCT , CM000681.1:g.38991232_38991236delinsCCTCT	GRCh37
NC_000019.8:g.43683072_43683076delinsCCTCT	NCBI36
NG_008866.1:g.71893_71897delinsCCTCT , LRG_766:g.71893_71897delinsCCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7324-14_7324-10delinsCCTCT	ENSP00000471601.2:n.7324-14_7324-10delinsCCTCT
ENST00000359596.8:c.7324-14_7324-10delinsCCTCT MANE Select	ENSP00000352608.2:n.7324-14_7324-10delinsCCTCT
ENST00000355481.8:c.7324-14_7324-10delinsCCTCT	ENSP00000347667.3:n.7324-14_7324-10delinsCCTCT
ENST00000359596.7:c.7324-14_7324-10delinsCCTCT	ENSP00000352608.2:n.7324-14_7324-10delinsCCTCT
ENST00000360985.7:c.7321-14_7321-10delinsCCTCT	ENSP00000354254.4:n.7321-14_7321-10delinsCCTCT
ENST00000594335.5:c.776-14_776-10delinsCCTCT
NM_000540.2:c.7324-14_7324-10delinsCCTCT , LRG_766t1:c.7324-14_7324-10delinsCCTCT	NP_000531.2:n.7324-14_7324-10delinsCCTCT
NM_001042723.1:c.7324-14_7324-10delinsCCTCT	NP_001036188.1:n.7324-14_7324-10delinsCCTCT
XM_006723317.1:c.7324-14_7324-10delinsCCTCT	XP_006723380.1:n.7324-14_7324-10delinsCCTCT
XM_006723319.1:c.7324-14_7324-10delinsCCTCT	XP_006723382.1:n.7324-14_7324-10delinsCCTCT
XM_011527204.1:c.7321-14_7321-10delinsCCTCT	XP_011525506.1:n.7321-14_7321-10delinsCCTCT
XM_011527205.1:c.7324-14_7324-10delinsCCTCT	XP_011525507.1:n.7324-14_7324-10delinsCCTCT
XM_006723317.2:c.7324-14_7324-10delinsCCTCT	XP_006723380.1:n.7324-14_7324-10delinsCCTCT
XM_006723319.2:c.7324-14_7324-10delinsCCTCT	XP_006723382.1:n.7324-14_7324-10delinsCCTCT
XM_011527205.2:c.7324-14_7324-10delinsCCTCT	XP_011525507.1:n.7324-14_7324-10delinsCCTCT
XR_001753735.1:n.7407-14_7407-10delinsCCTCT
NM_000540.3:c.7324-14_7324-10delinsCCTCT MANE Select	NP_000531.2:n.7324-14_7324-10delinsCCTCT
NM_001042723.2:c.7324-14_7324-10delinsCCTCT	NP_001036188.1:n.7324-14_7324-10delinsCCTCT