Canonical Allele Identifier: CA2584910741
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578211-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578215del , CM000681.2:g.38578215del GRCh38
NC_000019.9:g.39068855del , CM000681.1:g.39068855del GRCh37
NC_000019.8:g.43760695del NCBI36
NG_008866.1:g.149516del , LRG_766:g.149516del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+11del
ENST00000688602.1:c.2697+11del
ENST00000689936.1:c.2669+11del
ENST00000359596.8:c.14364+11del MANE Select ENSP00000352608.2:n.14364+11del
ENST00000355481.8:c.14349+11del ENSP00000347667.3:n.14349+11del
ENST00000359596.7:c.14364+11del ENSP00000352608.2:n.14364+11del
ENST00000360985.7:c.14346+11del ENSP00000354254.4:n.14346+11del
NM_000540.2:c.14364+11del , LRG_766t1:c.14364+11del NP_000531.2:n.14364+11del
NM_001042723.1:c.14349+11del NP_001036188.1:n.14349+11del
XM_006723317.1:c.14346+11del XP_006723380.1:n.14346+11del
XM_006723319.1:c.14331+11del XP_006723382.1:n.14331+11del
XM_011527204.1:c.14361+11del XP_011525506.1:n.14361+11del
XM_011527205.1:c.14277+11del XP_011525507.1:n.14277+11del
XM_006723317.2:c.14346+11del XP_006723380.1:n.14346+11del
XM_006723319.2:c.14331+11del XP_006723382.1:n.14331+11del
XM_011527205.2:c.14277+11del XP_011525507.1:n.14277+11del
NM_000540.3:c.14364+11del MANE Select NP_000531.2:n.14364+11del
NM_001042723.2:c.14349+11del NP_001036188.1:n.14349+11del
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