Canonical Allele Identifier: CA2582145348

Gene: RYR1

Linked Data

• dbSNP Id: rs2145587103
• gnomAD v3: 19-38496586-TGGCACCCCGTCCA-T
• gnomAD v4: 19-38496586-TGGCACCCCGTCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496590_38496602del , CM000681.2:g.38496590_38496602del	GRCh38
NC_000019.9:g.38987230_38987242del , CM000681.1:g.38987230_38987242del	GRCh37
NC_000019.8:g.43679070_43679082del	NCBI36
NG_008866.1:g.67891_67903del , LRG_766:g.67891_67903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6796+49_6796+61del	ENSP00000471601.2:n.6796+49_6796+61del
ENST00000359596.8:c.6796+49_6796+61del MANE Select	ENSP00000352608.2:n.6796+49_6796+61del
ENST00000355481.8:c.6796+49_6796+61del	ENSP00000347667.3:n.6796+49_6796+61del
ENST00000359596.7:c.6796+49_6796+61del	ENSP00000352608.2:n.6796+49_6796+61del
ENST00000360985.7:c.6793+49_6793+61del	ENSP00000354254.4:n.6793+49_6793+61del
ENST00000594335.5:c.248+49_248+61del
NM_000540.2:c.6796+49_6796+61del , LRG_766t1:c.6796+49_6796+61del	NP_000531.2:n.6796+49_6796+61del
NM_001042723.1:c.6796+49_6796+61del	NP_001036188.1:n.6796+49_6796+61del
XM_006723317.1:c.6796+49_6796+61del	XP_006723380.1:n.6796+49_6796+61del
XM_006723319.1:c.6796+49_6796+61del	XP_006723382.1:n.6796+49_6796+61del
XM_011527204.1:c.6793+49_6793+61del	XP_011525506.1:n.6793+49_6793+61del
XM_011527205.1:c.6796+49_6796+61del	XP_011525507.1:n.6796+49_6796+61del
XM_006723317.2:c.6796+49_6796+61del	XP_006723380.1:n.6796+49_6796+61del
XM_006723319.2:c.6796+49_6796+61del	XP_006723382.1:n.6796+49_6796+61del
XM_011527205.2:c.6796+49_6796+61del	XP_011525507.1:n.6796+49_6796+61del
XR_001753735.1:n.6879+49_6879+61del
NM_000540.3:c.6796+49_6796+61del MANE Select	NP_000531.2:n.6796+49_6796+61del
NM_001042723.2:c.6796+49_6796+61del	NP_001036188.1:n.6796+49_6796+61del