Canonical Allele Identifier: CA2584910818
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578328-GTATCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578330_38578334del , CM000681.2:g.38578330_38578334del GRCh38
NC_000019.9:g.39068970_39068974del , CM000681.1:g.39068970_39068974del GRCh37
NC_000019.8:g.43760810_43760814del NCBI36
NG_008866.1:g.149631_149635del , LRG_766:g.149631_149635del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+126_1300+130del
ENST00000688602.1:c.2697+126_2697+130del
ENST00000689936.1:c.2669+126_2669+130del
ENST00000359596.8:c.14364+126_14364+130del MANE Select ENSP00000352608.2:n.14364+126_14364+130del
ENST00000355481.8:c.14349+126_14349+130del ENSP00000347667.3:n.14349+126_14349+130del
ENST00000359596.7:c.14364+126_14364+130del ENSP00000352608.2:n.14364+126_14364+130del
ENST00000360985.7:c.14346+126_14346+130del ENSP00000354254.4:n.14346+126_14346+130del
NM_000540.2:c.14364+126_14364+130del , LRG_766t1:c.14364+126_14364+130del NP_000531.2:n.14364+126_14364+130del
NM_001042723.1:c.14349+126_14349+130del NP_001036188.1:n.14349+126_14349+130del
XM_006723317.1:c.14346+126_14346+130del XP_006723380.1:n.14346+126_14346+130del
XM_006723319.1:c.14331+126_14331+130del XP_006723382.1:n.14331+126_14331+130del
XM_011527204.1:c.14361+126_14361+130del XP_011525506.1:n.14361+126_14361+130del
XM_011527205.1:c.14277+126_14277+130del XP_011525507.1:n.14277+126_14277+130del
XM_006723317.2:c.14346+126_14346+130del XP_006723380.1:n.14346+126_14346+130del
XM_006723319.2:c.14331+126_14331+130del XP_006723382.1:n.14331+126_14331+130del
XM_011527205.2:c.14277+126_14277+130del XP_011525507.1:n.14277+126_14277+130del
NM_000540.3:c.14364+126_14364+130del MANE Select NP_000531.2:n.14364+126_14364+130del
NM_001042723.2:c.14349+126_14349+130del NP_001036188.1:n.14349+126_14349+130del
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