Canonical Allele Identifier: CA2335054551

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502769_38502778delinsAGGGGCAGGG , CM000681.2:g.38502769_38502778delinsAGGGGCAGGG	GRCh38
NC_000019.9:g.38993409_38993418delinsAGGGGCAGGG , CM000681.1:g.38993409_38993418delinsAGGGGCAGGG	GRCh37
NC_000019.8:g.43685249_43685258delinsAGGGGCAGGG	NCBI36
NG_008866.1:g.74070_74079delinsAGGGGCAGGG , LRG_766:g.74070_74079delinsAGGGGCAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+42_7835+51delinsAGGGGCAGGG	ENSP00000471601.2:n.7835+42_7835+51delinsAGGGGCAGGG
ENST00000359596.8:c.7835+42_7835+51delinsAGGGGCAGGG MANE Select	ENSP00000352608.2:n.7835+42_7835+51delinsAGGGGCAGGG
ENST00000355481.8:c.7835+42_7835+51delinsAGGGGCAGGG	ENSP00000347667.3:n.7835+42_7835+51delinsAGGGGCAGGG
ENST00000359596.7:c.7835+42_7835+51delinsAGGGGCAGGG	ENSP00000352608.2:n.7835+42_7835+51delinsAGGGGCAGGG
ENST00000360985.7:c.7832+42_7832+51delinsAGGGGCAGGG	ENSP00000354254.4:n.7832+42_7832+51delinsAGGGGCAGGG
ENST00000594335.5:c.1287+42_1287+51delinsAGGGGCAGGG
NM_000540.2:c.7835+42_7835+51delinsAGGGGCAGGG , LRG_766t1:c.7835+42_7835+51delinsAGGGGCAGGG	NP_000531.2:n.7835+42_7835+51delinsAGGGGCAGGG
NM_001042723.1:c.7835+42_7835+51delinsAGGGGCAGGG	NP_001036188.1:n.7835+42_7835+51delinsAGGGGCAGGG
XM_006723317.1:c.7835+42_7835+51delinsAGGGGCAGGG	XP_006723380.1:n.7835+42_7835+51delinsAGGGGCAGGG
XM_006723319.1:c.7835+42_7835+51delinsAGGGGCAGGG	XP_006723382.1:n.7835+42_7835+51delinsAGGGGCAGGG
XM_011527204.1:c.7832+42_7832+51delinsAGGGGCAGGG	XP_011525506.1:n.7832+42_7832+51delinsAGGGGCAGGG
XM_011527205.1:c.7835+42_7835+51delinsAGGGGCAGGG	XP_011525507.1:n.7835+42_7835+51delinsAGGGGCAGGG
XM_006723317.2:c.7835+42_7835+51delinsAGGGGCAGGG	XP_006723380.1:n.7835+42_7835+51delinsAGGGGCAGGG
XM_006723319.2:c.7835+42_7835+51delinsAGGGGCAGGG	XP_006723382.1:n.7835+42_7835+51delinsAGGGGCAGGG
XM_011527205.2:c.7835+42_7835+51delinsAGGGGCAGGG	XP_011525507.1:n.7835+42_7835+51delinsAGGGGCAGGG
XR_001753735.1:n.7918+42_7918+51delinsAGGGGCAGGG
NM_000540.3:c.7835+42_7835+51delinsAGGGGCAGGG MANE Select	NP_000531.2:n.7835+42_7835+51delinsAGGGGCAGGG
NM_001042723.2:c.7835+42_7835+51delinsAGGGGCAGGG	NP_001036188.1:n.7835+42_7835+51delinsAGGGGCAGGG