Canonical Allele Identifier: CA2584911116

Gene: RYR1

Linked Data

• gnomAD v4: 19-38580306-CATGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580307_38580311del , CM000681.2:g.38580307_38580311del	GRCh38
NC_000019.9:g.39070947_39070951del , CM000681.1:g.39070947_39070951del	GRCh37
NC_000019.8:g.43762787_43762791del	NCBI36
NG_008866.1:g.151608_151612del , LRG_766:g.151608_151612del

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1448-63_1448-59del
ENST00000688602.1:c.2845-63_2845-59del
ENST00000689936.1:c.2817-63_2817-59del
ENST00000359596.8:c.14512-63_14512-59del MANE Select	ENSP00000352608.2:n.14512-63_14512-59del
ENST00000355481.8:c.14497-63_14497-59del	ENSP00000347667.3:n.14497-63_14497-59del
ENST00000359596.7:c.14512-63_14512-59del	ENSP00000352608.2:n.14512-63_14512-59del
ENST00000360985.7:c.14494-63_14494-59del	ENSP00000354254.4:n.14494-63_14494-59del
NM_000540.2:c.14512-63_14512-59del , LRG_766t1:c.14512-63_14512-59del	NP_000531.2:n.14512-63_14512-59del
NM_001042723.1:c.14497-63_14497-59del	NP_001036188.1:n.14497-63_14497-59del
XM_006723317.1:c.14494-63_14494-59del	XP_006723380.1:n.14494-63_14494-59del
XM_006723319.1:c.14479-63_14479-59del	XP_006723382.1:n.14479-63_14479-59del
XM_011527204.1:c.14509-63_14509-59del	XP_011525506.1:n.14509-63_14509-59del
XM_011527205.1:c.14425-63_14425-59del	XP_011525507.1:n.14425-63_14425-59del
XM_006723317.2:c.14494-63_14494-59del	XP_006723380.1:n.14494-63_14494-59del
XM_006723319.2:c.14479-63_14479-59del	XP_006723382.1:n.14479-63_14479-59del
XM_011527205.2:c.14425-63_14425-59del	XP_011525507.1:n.14425-63_14425-59del
NM_000540.3:c.14512-63_14512-59del MANE Select	NP_000531.2:n.14512-63_14512-59del
NM_001042723.2:c.14497-63_14497-59del	NP_001036188.1:n.14497-63_14497-59del