Canonical Allele Identifier: CA2335054950

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38503086_38503103delinsAGTTAGGGCAGCGTCCCC , CM000681.2:g.38503086_38503103delinsAGTTAGGGCAGCGTCCCC	GRCh38
NC_000019.9:g.38993726_38993743delinsAGTTAGGGCAGCGTCCCC , CM000681.1:g.38993726_38993743delinsAGTTAGGGCAGCGTCCCC	GRCh37
NC_000019.8:g.43685566_43685583delinsAGTTAGGGCAGCGTCCCC	NCBI36
NG_008866.1:g.74387_74404delinsAGTTAGGGCAGCGTCCCC , LRG_766:g.74387_74404delinsAGTTAGGGCAGCGTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	ENSP00000471601.2:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC...
ENST00000359596.8:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC MANE Select	ENSP00000352608.2:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC...
ENST00000355481.8:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	ENSP00000347667.3:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC...
ENST00000359596.7:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	ENSP00000352608.2:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC...
ENST00000360985.7:c.7923+116_7923+133delinsAGTTAGGGCAGCGTCCCC	ENSP00000354254.4:n.7923+116_7923+133delinsAGTTAGGGCAGCGTCCCC...
ENST00000594335.5:c.1378+116_1378+133delinsAGTTAGGGCAGCGTCCCC
NM_000540.2:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC , LRG_766t1:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	NP_000531.2:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC
NM_001042723.1:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	NP_001036188.1:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC
XM_006723317.1:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	XP_006723380.1:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC
XM_006723319.1:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	XP_006723382.1:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC
XM_011527204.1:c.7923+116_7923+133delinsAGTTAGGGCAGCGTCCCC	XP_011525506.1:n.7923+116_7923+133delinsAGTTAGGGCAGCGTCCCC
XM_011527205.1:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	XP_011525507.1:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC
XM_006723317.2:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	XP_006723380.1:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC
XM_006723319.2:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	XP_006723382.1:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC
XM_011527205.2:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	XP_011525507.1:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC
XR_001753735.1:n.8009+116_8009+133delinsAGTTAGGGCAGCGTCCCC
NM_000540.3:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC MANE Select	NP_000531.2:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC
NM_001042723.2:c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC	NP_001036188.1:n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC