Canonical Allele Identifier: CA2576771085

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499894_38499897del , CM000681.2:g.38499894_38499897del	GRCh38
NC_000019.9:g.38990534_38990537del , CM000681.1:g.38990534_38990537del	GRCh37
NC_000019.8:g.43682374_43682377del	NCBI36
NG_008866.1:g.71195_71198del , LRG_766:g.71195_71198del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7215-14_7215-11del	ENSP00000471601.2:n.7215-14_7215-11del
ENST00000359596.8:c.7215-14_7215-11del MANE Select	ENSP00000352608.2:n.7215-14_7215-11del
ENST00000355481.8:c.7215-14_7215-11del	ENSP00000347667.3:n.7215-14_7215-11del
ENST00000359596.7:c.7215-14_7215-11del	ENSP00000352608.2:n.7215-14_7215-11del
ENST00000360985.7:c.7212-14_7212-11del	ENSP00000354254.4:n.7212-14_7212-11del
ENST00000594335.5:c.667-14_667-11del
NM_000540.2:c.7215-14_7215-11del , LRG_766t1:c.7215-14_7215-11del	NP_000531.2:n.7215-14_7215-11del
NM_001042723.1:c.7215-14_7215-11del	NP_001036188.1:n.7215-14_7215-11del
XM_006723317.1:c.7215-14_7215-11del	XP_006723380.1:n.7215-14_7215-11del
XM_006723319.1:c.7215-14_7215-11del	XP_006723382.1:n.7215-14_7215-11del
XM_011527204.1:c.7212-14_7212-11del	XP_011525506.1:n.7212-14_7212-11del
XM_011527205.1:c.7215-14_7215-11del	XP_011525507.1:n.7215-14_7215-11del
XM_006723317.2:c.7215-14_7215-11del	XP_006723380.1:n.7215-14_7215-11del
XM_006723319.2:c.7215-14_7215-11del	XP_006723382.1:n.7215-14_7215-11del
XM_011527205.2:c.7215-14_7215-11del	XP_011525507.1:n.7215-14_7215-11del
XR_001753735.1:n.7298-14_7298-11del
NM_000540.3:c.7215-14_7215-11del MANE Select	NP_000531.2:n.7215-14_7215-11del
NM_001042723.2:c.7215-14_7215-11del	NP_001036188.1:n.7215-14_7215-11del