Canonical Allele Identifier: CA2335054717

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502823_38502826delinsAGGG , CM000681.2:g.38502823_38502826delinsAGGG	GRCh38
NC_000019.9:g.38993463_38993466delinsAGGG , CM000681.1:g.38993463_38993466delinsAGGG	GRCh37
NC_000019.8:g.43685303_43685306delinsAGGG	NCBI36
NG_008866.1:g.74124_74127delinsAGGG , LRG_766:g.74124_74127delinsAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-57_7836-54delinsAGGG	ENSP00000471601.2:n.7836-57_7836-54delinsAGGG
ENST00000359596.8:c.7836-57_7836-54delinsAGGG MANE Select	ENSP00000352608.2:n.7836-57_7836-54delinsAGGG
ENST00000355481.8:c.7836-57_7836-54delinsAGGG	ENSP00000347667.3:n.7836-57_7836-54delinsAGGG
ENST00000359596.7:c.7836-57_7836-54delinsAGGG	ENSP00000352608.2:n.7836-57_7836-54delinsAGGG
ENST00000360985.7:c.7833-57_7833-54delinsAGGG	ENSP00000354254.4:n.7833-57_7833-54delinsAGGG
ENST00000594335.5:c.1288-57_1288-54delinsAGGG
NM_000540.2:c.7836-57_7836-54delinsAGGG , LRG_766t1:c.7836-57_7836-54delinsAGGG	NP_000531.2:n.7836-57_7836-54delinsAGGG
NM_001042723.1:c.7836-57_7836-54delinsAGGG	NP_001036188.1:n.7836-57_7836-54delinsAGGG
XM_006723317.1:c.7836-57_7836-54delinsAGGG	XP_006723380.1:n.7836-57_7836-54delinsAGGG
XM_006723319.1:c.7836-57_7836-54delinsAGGG	XP_006723382.1:n.7836-57_7836-54delinsAGGG
XM_011527204.1:c.7833-57_7833-54delinsAGGG	XP_011525506.1:n.7833-57_7833-54delinsAGGG
XM_011527205.1:c.7836-57_7836-54delinsAGGG	XP_011525507.1:n.7836-57_7836-54delinsAGGG
XM_006723317.2:c.7836-57_7836-54delinsAGGG	XP_006723380.1:n.7836-57_7836-54delinsAGGG
XM_006723319.2:c.7836-57_7836-54delinsAGGG	XP_006723382.1:n.7836-57_7836-54delinsAGGG
XM_011527205.2:c.7836-57_7836-54delinsAGGG	XP_011525507.1:n.7836-57_7836-54delinsAGGG
XR_001753735.1:n.7919-57_7919-54delinsAGGG
NM_000540.3:c.7836-57_7836-54delinsAGGG MANE Select	NP_000531.2:n.7836-57_7836-54delinsAGGG
NM_001042723.2:c.7836-57_7836-54delinsAGGG	NP_001036188.1:n.7836-57_7836-54delinsAGGG