Canonical Allele Identifier: CA882064300
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1387726252
gnomAD v3: 19-38578263-TCCCAA-T
gnomAD v4: 19-38578263-TCCCAA-T
MyVariant Identifiers: chr19:g.39068904_39068908del (hg19) chr19:g.38578264_38578268del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578265_38578269del , CM000681.2:g.38578265_38578269del GRCh38
NC_000019.9:g.39068905_39068909del , CM000681.1:g.39068905_39068909del GRCh37
NC_000019.8:g.43760745_43760749del NCBI36
NG_008866.1:g.149566_149570del , LRG_766:g.149566_149570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+61_1300+65del
ENST00000688602.1:c.2697+61_2697+65del
ENST00000689936.1:c.2669+61_2669+65del
ENST00000359596.8:c.14364+61_14364+65del MANE Select ENSP00000352608.2:n.14364+61_14364+65del
ENST00000355481.8:c.14349+61_14349+65del ENSP00000347667.3:n.14349+61_14349+65del
ENST00000359596.7:c.14364+61_14364+65del ENSP00000352608.2:n.14364+61_14364+65del
ENST00000360985.7:c.14346+61_14346+65del ENSP00000354254.4:n.14346+61_14346+65del
NM_000540.2:c.14364+61_14364+65del , LRG_766t1:c.14364+61_14364+65del NP_000531.2:n.14364+61_14364+65del
NM_001042723.1:c.14349+61_14349+65del NP_001036188.1:n.14349+61_14349+65del
XM_006723317.1:c.14346+61_14346+65del XP_006723380.1:n.14346+61_14346+65del
XM_006723319.1:c.14331+61_14331+65del XP_006723382.1:n.14331+61_14331+65del
XM_011527204.1:c.14361+61_14361+65del XP_011525506.1:n.14361+61_14361+65del
XM_011527205.1:c.14277+61_14277+65del XP_011525507.1:n.14277+61_14277+65del
XM_006723317.2:c.14346+61_14346+65del XP_006723380.1:n.14346+61_14346+65del
XM_006723319.2:c.14331+61_14331+65del XP_006723382.1:n.14331+61_14331+65del
XM_011527205.2:c.14277+61_14277+65del XP_011525507.1:n.14277+61_14277+65del
NM_000540.3:c.14364+61_14364+65del MANE Select NP_000531.2:n.14364+61_14364+65del
NM_001042723.2:c.14349+61_14349+65del NP_001036188.1:n.14349+61_14349+65del
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