Canonical Allele Identifier: CA2335027228

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38446781_38446782delinsAG , CM000681.2:g.38446781_38446782delinsAG	GRCh38
NC_000019.9:g.38937421_38937422delinsAG , CM000681.1:g.38937421_38937422delinsAG	GRCh37
NC_000019.8:g.43629261_43629262delinsAG	NCBI36
NG_008866.1:g.18082_18083delinsAG , LRG_766:g.18082_18083delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.800+13_800+14delinsAG	ENSP00000471601.2:n.800+13_800+14delinsAG
ENST00000359596.8:c.800+13_800+14delinsAG MANE Select	ENSP00000352608.2:n.800+13_800+14delinsAG
ENST00000355481.8:c.800+13_800+14delinsAG	ENSP00000347667.3:n.800+13_800+14delinsAG
ENST00000359596.7:c.800+13_800+14delinsAG	ENSP00000352608.2:n.800+13_800+14delinsAG
ENST00000360985.7:c.800+13_800+14delinsAG	ENSP00000354254.4:n.800+13_800+14delinsAG
NM_000540.2:c.800+13_800+14delinsAG , LRG_766t1:c.800+13_800+14delinsAG	NP_000531.2:n.800+13_800+14delinsAG
NM_001042723.1:c.800+13_800+14delinsAG	NP_001036188.1:n.800+13_800+14delinsAG
XM_006723317.1:c.800+13_800+14delinsAG	XP_006723380.1:n.800+13_800+14delinsAG
XM_006723319.1:c.800+13_800+14delinsAG	XP_006723382.1:n.800+13_800+14delinsAG
XM_011527204.1:c.800+13_800+14delinsAG	XP_011525506.1:n.800+13_800+14delinsAG
XM_011527205.1:c.800+13_800+14delinsAG	XP_011525507.1:n.800+13_800+14delinsAG
XM_006723317.2:c.800+13_800+14delinsAG	XP_006723380.1:n.800+13_800+14delinsAG
XM_006723319.2:c.800+13_800+14delinsAG	XP_006723382.1:n.800+13_800+14delinsAG
XM_011527205.2:c.800+13_800+14delinsAG	XP_011525507.1:n.800+13_800+14delinsAG
XR_001753735.1:n.883+13_883+14delinsAG
NM_000540.3:c.800+13_800+14delinsAG MANE Select	NP_000531.2:n.800+13_800+14delinsAG
NM_001042723.2:c.800+13_800+14delinsAG	NP_001036188.1:n.800+13_800+14delinsAG