Canonical Allele Identifier: CA2335024279

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38440639_38440643delinsACTGT , CM000681.2:g.38440639_38440643delinsACTGT	GRCh38
NC_000019.9:g.38931279_38931283delinsACTGT , CM000681.1:g.38931279_38931283delinsACTGT	GRCh37
NC_000019.8:g.43623119_43623123delinsACTGT	NCBI36
NG_008866.1:g.11940_11944delinsACTGT , LRG_766:g.11940_11944delinsACTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.46-106_46-102delinsACTGT	ENSP00000471601.2:n.46-106_46-102delinsACTGT
ENST00000359596.8:c.46-106_46-102delinsACTGT MANE Select	ENSP00000352608.2:n.46-106_46-102delinsACTGT
ENST00000355481.8:c.46-106_46-102delinsACTGT	ENSP00000347667.3:n.46-106_46-102delinsACTGT
ENST00000359596.7:c.46-106_46-102delinsACTGT	ENSP00000352608.2:n.46-106_46-102delinsACTGT
ENST00000360985.7:c.46-106_46-102delinsACTGT	ENSP00000354254.4:n.46-106_46-102delinsACTGT
NM_000540.2:c.46-106_46-102delinsACTGT , LRG_766t1:c.46-106_46-102delinsACTGT	NP_000531.2:n.46-106_46-102delinsACTGT
NM_001042723.1:c.46-106_46-102delinsACTGT	NP_001036188.1:n.46-106_46-102delinsACTGT
XM_006723317.1:c.46-106_46-102delinsACTGT	XP_006723380.1:n.46-106_46-102delinsACTGT
XM_006723319.1:c.46-106_46-102delinsACTGT	XP_006723382.1:n.46-106_46-102delinsACTGT
XM_011527204.1:c.46-106_46-102delinsACTGT	XP_011525506.1:n.46-106_46-102delinsACTGT
XM_011527205.1:c.46-106_46-102delinsACTGT	XP_011525507.1:n.46-106_46-102delinsACTGT
XM_006723317.2:c.46-106_46-102delinsACTGT	XP_006723380.1:n.46-106_46-102delinsACTGT
XM_006723319.2:c.46-106_46-102delinsACTGT	XP_006723382.1:n.46-106_46-102delinsACTGT
XM_011527205.2:c.46-106_46-102delinsACTGT	XP_011525507.1:n.46-106_46-102delinsACTGT
XR_001753735.1:n.129-106_129-102delinsACTGT
NM_000540.3:c.46-106_46-102delinsACTGT MANE Select	NP_000531.2:n.46-106_46-102delinsACTGT
NM_001042723.2:c.46-106_46-102delinsACTGT	NP_001036188.1:n.46-106_46-102delinsACTGT