Canonical Allele Identifier: CA9415912
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs781376720
ExAC: 19:39002793 GCCCACTCCCACCATCATCGGGCC / G
gnomAD v2: 19-39002793-GCCCACTCCCACCATCATCGGGCC-G
gnomAD v3: 19-38512153-GCCCACTCCCACCATCATCGGGCC-G
gnomAD v4: 19-38512153-GCCCACTCCCACCATCATCGGGCC-G
MyVariant Identifiers: chr19:g.39002794_39002816del (hg19) chr19:g.38512154_38512176del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38512159_38512181del , CM000681.2:g.38512159_38512181del GRCh38
NC_000019.9:g.39002799_39002821del , CM000681.1:g.39002799_39002821del GRCh37
NC_000019.8:g.43694639_43694661del NCBI36
NG_008866.1:g.83460_83482del , LRG_766:g.83460_83482del

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.9173-86_9173-64del ENSP00000471601.2:n.9173-86_9173-64del
ENST00000359596.8:c.9233+27_9233+49del MANE Select ENSP00000352608.2:n.9233+27_9233+49del
ENST00000355481.8:c.9233+27_9233+49del ENSP00000347667.3:n.9233+27_9233+49del
ENST00000359596.7:c.9233+27_9233+49del ENSP00000352608.2:n.9233+27_9233+49del
ENST00000360985.7:c.9230+27_9230+49del ENSP00000354254.4:n.9230+27_9230+49del
ENST00000594335.5:c.2635+27_2635+49del
ENST00000599547.5:c.41-86_41-64del
NM_000540.2:c.9233+27_9233+49del , LRG_766t1:c.9233+27_9233+49del NP_000531.2:n.9233+27_9233+49del
NM_001042723.1:c.9233+27_9233+49del NP_001036188.1:n.9233+27_9233+49del
XM_006723317.1:c.9233+27_9233+49del XP_006723380.1:n.9233+27_9233+49del
XM_006723319.1:c.9233+27_9233+49del XP_006723382.1:n.9233+27_9233+49del
XM_011527204.1:c.9230+27_9230+49del XP_011525506.1:n.9230+27_9230+49del
XM_011527205.1:c.9233+27_9233+49del XP_011525507.1:n.9233+27_9233+49del
XM_006723317.2:c.9233+27_9233+49del XP_006723380.1:n.9233+27_9233+49del
XM_006723319.2:c.9233+27_9233+49del XP_006723382.1:n.9233+27_9233+49del
XM_011527205.2:c.9233+27_9233+49del XP_011525507.1:n.9233+27_9233+49del
XR_001753735.1:n.9266+27_9266+49del
NM_000540.3:c.9233+27_9233+49del MANE Select NP_000531.2:n.9233+27_9233+49del
NM_001042723.2:c.9233+27_9233+49del NP_001036188.1:n.9233+27_9233+49del
Search 100 bp 5'
Search 100 bp 3'