Canonical Allele Identifier: CA2584911010

Gene: RYR1

Linked Data

• gnomAD v4: 19-38580128-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580132_38580133del , CM000681.2:g.38580132_38580133del	GRCh38
NC_000019.9:g.39070772_39070773del , CM000681.1:g.39070772_39070773del	GRCh37
NC_000019.8:g.43762612_43762613del	NCBI36
NG_008866.1:g.151433_151434del , LRG_766:g.151433_151434del

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1447+4_1447+5del
ENST00000688602.1:c.2844+4_2844+5del
ENST00000689936.1:c.2816+4_2816+5del
ENST00000359596.8:c.14511+4_14511+5del MANE Select	ENSP00000352608.2:n.14511+4_14511+5del
ENST00000355481.8:c.14496+4_14496+5del	ENSP00000347667.3:n.14496+4_14496+5del
ENST00000359596.7:c.14511+4_14511+5del	ENSP00000352608.2:n.14511+4_14511+5del
ENST00000360985.7:c.14493+4_14493+5del	ENSP00000354254.4:n.14493+4_14493+5del
NM_000540.2:c.14511+4_14511+5del , LRG_766t1:c.14511+4_14511+5del	NP_000531.2:n.14511+4_14511+5del
NM_001042723.1:c.14496+4_14496+5del	NP_001036188.1:n.14496+4_14496+5del
XM_006723317.1:c.14493+4_14493+5del	XP_006723380.1:n.14493+4_14493+5del
XM_006723319.1:c.14478+4_14478+5del	XP_006723382.1:n.14478+4_14478+5del
XM_011527204.1:c.14508+4_14508+5del	XP_011525506.1:n.14508+4_14508+5del
XM_011527205.1:c.14424+4_14424+5del	XP_011525507.1:n.14424+4_14424+5del
XM_006723317.2:c.14493+4_14493+5del	XP_006723380.1:n.14493+4_14493+5del
XM_006723319.2:c.14478+4_14478+5del	XP_006723382.1:n.14478+4_14478+5del
XM_011527205.2:c.14424+4_14424+5del	XP_011525507.1:n.14424+4_14424+5del
NM_000540.3:c.14511+4_14511+5del MANE Select	NP_000531.2:n.14511+4_14511+5del
NM_001042723.2:c.14496+4_14496+5del	NP_001036188.1:n.14496+4_14496+5del