Canonical Allele Identifier: CA2335094909

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584921_38584939delinsCCAGTGTGCTCCCCTCCCT , CM000681.2:g.38584921_38584939delinsCCAGTGTGCTCCCCTCCCT	GRCh38
NC_000019.9:g.39075561_39075579delinsCCAGTGTGCTCCCCTCCCT , CM000681.1:g.39075561_39075579delinsCCAGTGTGCTCCCCTCCCT	GRCh37
NC_000019.8:g.43767401_43767419delinsCCAGTGTGCTCCCCTCCCT	NCBI36
NG_008866.1:g.156222_156240delinsCCAGTGTGCTCCCCTCCCT , LRG_766:g.156222_156240delinsCCAGTGTGCTCCCCTCCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1583-22_1583-4delinsCCAGTGTGCTCCCCTCCCT
ENST00000688602.1:c.2980-22_2980-4delinsCCAGTGTGCTCCCCTCCCT
ENST00000689936.1:c.2952-22_2952-4delinsCCAGTGTGCTCCCCTCCCT
ENST00000692547.1:n.18_36delinsCCAGTGTGCTCCCCTCCCT
ENST00000359596.8:c.14647-22_14647-4delinsCCAGTGTGCTCCCCTCCCT MANE Select	ENSP00000352608.2:n.14647-22_14647-4delin...
ENST00000355481.8:c.14632-22_14632-4delinsCCAGTGTGCTCCCCTCCCT	ENSP00000347667.3:n.14632-22_14632-4delin...
ENST00000359596.7:c.14647-22_14647-4delinsCCAGTGTGCTCCCCTCCCT	ENSP00000352608.2:n.14647-22_14647-4delin...
ENST00000360985.7:c.14629-22_14629-4delinsCCAGTGTGCTCCCCTCCCT	ENSP00000354254.4:n.14629-22_14629-4delin...
NM_000540.2:c.14647-22_14647-4delinsCCAGTGTGCTCCCCTCCCT , LRG_766t1:c.14647-22_14647-4delinsCCAGTGTGCTCCCCTCCCT	NP_000531.2:n.14647-22_14647-4delinsCCAGT...
NM_001042723.1:c.14632-22_14632-4delinsCCAGTGTGCTCCCCTCCCT	NP_001036188.1:n.14632-22_14632-4delinsCC...
XM_006723317.1:c.14629-22_14629-4delinsCCAGTGTGCTCCCCTCCCT	XP_006723380.1:n.14629-22_14629-4delinsCC...
XM_006723319.1:c.14614-22_14614-4delinsCCAGTGTGCTCCCCTCCCT	XP_006723382.1:n.14614-22_14614-4delinsCC...
XM_011527204.1:c.14644-22_14644-4delinsCCAGTGTGCTCCCCTCCCT	XP_011525506.1:n.14644-22_14644-4delinsCC...
XM_011527205.1:c.14560-22_14560-4delinsCCAGTGTGCTCCCCTCCCT	XP_011525507.1:n.14560-22_14560-4delinsCC...
XM_006723317.2:c.14629-22_14629-4delinsCCAGTGTGCTCCCCTCCCT	XP_006723380.1:n.14629-22_14629-4delinsCC...
XM_006723319.2:c.14614-22_14614-4delinsCCAGTGTGCTCCCCTCCCT	XP_006723382.1:n.14614-22_14614-4delinsCC...
XM_011527205.2:c.14560-22_14560-4delinsCCAGTGTGCTCCCCTCCCT	XP_011525507.1:n.14560-22_14560-4delinsCC...
NM_000540.3:c.14647-22_14647-4delinsCCAGTGTGCTCCCCTCCCT MANE Select	NP_000531.2:n.14647-22_14647-4delinsCCAGT...
NM_001042723.2:c.14632-22_14632-4delinsCCAGTGTGCTCCCCTCCCT	NP_001036188.1:n.14632-22_14632-4delinsCC...