Canonical Allele Identifier: CA2584910745
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578224-CTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578225_38578226del , CM000681.2:g.38578225_38578226del GRCh38
NC_000019.9:g.39068865_39068866del , CM000681.1:g.39068865_39068866del GRCh37
NC_000019.8:g.43760705_43760706del NCBI36
NG_008866.1:g.149526_149527del , LRG_766:g.149526_149527del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+21_1300+22del
ENST00000688602.1:c.2697+21_2697+22del
ENST00000689936.1:c.2669+21_2669+22del
ENST00000359596.8:c.14364+21_14364+22del MANE Select ENSP00000352608.2:n.14364+21_14364+22del
ENST00000355481.8:c.14349+21_14349+22del ENSP00000347667.3:n.14349+21_14349+22del
ENST00000359596.7:c.14364+21_14364+22del ENSP00000352608.2:n.14364+21_14364+22del
ENST00000360985.7:c.14346+21_14346+22del ENSP00000354254.4:n.14346+21_14346+22del
NM_000540.2:c.14364+21_14364+22del , LRG_766t1:c.14364+21_14364+22del NP_000531.2:n.14364+21_14364+22del
NM_001042723.1:c.14349+21_14349+22del NP_001036188.1:n.14349+21_14349+22del
XM_006723317.1:c.14346+21_14346+22del XP_006723380.1:n.14346+21_14346+22del
XM_006723319.1:c.14331+21_14331+22del XP_006723382.1:n.14331+21_14331+22del
XM_011527204.1:c.14361+21_14361+22del XP_011525506.1:n.14361+21_14361+22del
XM_011527205.1:c.14277+21_14277+22del XP_011525507.1:n.14277+21_14277+22del
XM_006723317.2:c.14346+21_14346+22del XP_006723380.1:n.14346+21_14346+22del
XM_006723319.2:c.14331+21_14331+22del XP_006723382.1:n.14331+21_14331+22del
XM_011527205.2:c.14277+21_14277+22del XP_011525507.1:n.14277+21_14277+22del
NM_000540.3:c.14364+21_14364+22del MANE Select NP_000531.2:n.14364+21_14364+22del
NM_001042723.2:c.14349+21_14349+22del NP_001036188.1:n.14349+21_14349+22del
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