Canonical Allele Identifier: CA2584911113

Gene: RYR1

Linked Data

• gnomAD v4: 19-38580303-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580304_38580305del , CM000681.2:g.38580304_38580305del	GRCh38
NC_000019.9:g.39070944_39070945del , CM000681.1:g.39070944_39070945del	GRCh37
NC_000019.8:g.43762784_43762785del	NCBI36
NG_008866.1:g.151605_151606del , LRG_766:g.151605_151606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1448-66_1448-65del
ENST00000688602.1:c.2845-66_2845-65del
ENST00000689936.1:c.2817-66_2817-65del
ENST00000359596.8:c.14512-66_14512-65del MANE Select	ENSP00000352608.2:n.14512-66_14512-65del
ENST00000355481.8:c.14497-66_14497-65del	ENSP00000347667.3:n.14497-66_14497-65del
ENST00000359596.7:c.14512-66_14512-65del	ENSP00000352608.2:n.14512-66_14512-65del
ENST00000360985.7:c.14494-66_14494-65del	ENSP00000354254.4:n.14494-66_14494-65del
NM_000540.2:c.14512-66_14512-65del , LRG_766t1:c.14512-66_14512-65del	NP_000531.2:n.14512-66_14512-65del
NM_001042723.1:c.14497-66_14497-65del	NP_001036188.1:n.14497-66_14497-65del
XM_006723317.1:c.14494-66_14494-65del	XP_006723380.1:n.14494-66_14494-65del
XM_006723319.1:c.14479-66_14479-65del	XP_006723382.1:n.14479-66_14479-65del
XM_011527204.1:c.14509-66_14509-65del	XP_011525506.1:n.14509-66_14509-65del
XM_011527205.1:c.14425-66_14425-65del	XP_011525507.1:n.14425-66_14425-65del
XM_006723317.2:c.14494-66_14494-65del	XP_006723380.1:n.14494-66_14494-65del
XM_006723319.2:c.14479-66_14479-65del	XP_006723382.1:n.14479-66_14479-65del
XM_011527205.2:c.14425-66_14425-65del	XP_011525507.1:n.14425-66_14425-65del
NM_000540.3:c.14512-66_14512-65del MANE Select	NP_000531.2:n.14512-66_14512-65del
NM_001042723.2:c.14497-66_14497-65del	NP_001036188.1:n.14497-66_14497-65del