Canonical Allele Identifier: CA2584910716
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578123-TCCCCAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578128_38578133del , CM000681.2:g.38578128_38578133del GRCh38
NC_000019.9:g.39068768_39068773del , CM000681.1:g.39068768_39068773del GRCh37
NC_000019.8:g.43760608_43760613del NCBI36
NG_008866.1:g.149429_149434del , LRG_766:g.149429_149434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240-16_1240-11del
ENST00000688602.1:c.2637-16_2637-11del
ENST00000689936.1:c.2609-16_2609-11del
ENST00000359596.8:c.14304-16_14304-11del MANE Select ENSP00000352608.2:n.14304-16_14304-11del
ENST00000355481.8:c.14289-16_14289-11del ENSP00000347667.3:n.14289-16_14289-11del
ENST00000359596.7:c.14304-16_14304-11del ENSP00000352608.2:n.14304-16_14304-11del
ENST00000360985.7:c.14286-16_14286-11del ENSP00000354254.4:n.14286-16_14286-11del
NM_000540.2:c.14304-16_14304-11del , LRG_766t1:c.14304-16_14304-11del NP_000531.2:n.14304-16_14304-11del
NM_001042723.1:c.14289-16_14289-11del NP_001036188.1:n.14289-16_14289-11del
XM_006723317.1:c.14286-16_14286-11del XP_006723380.1:n.14286-16_14286-11del
XM_006723319.1:c.14271-16_14271-11del XP_006723382.1:n.14271-16_14271-11del
XM_011527204.1:c.14301-16_14301-11del XP_011525506.1:n.14301-16_14301-11del
XM_011527205.1:c.14217-16_14217-11del XP_011525507.1:n.14217-16_14217-11del
XM_006723317.2:c.14286-16_14286-11del XP_006723380.1:n.14286-16_14286-11del
XM_006723319.2:c.14271-16_14271-11del XP_006723382.1:n.14271-16_14271-11del
XM_011527205.2:c.14217-16_14217-11del XP_011525507.1:n.14217-16_14217-11del
NM_000540.3:c.14304-16_14304-11del MANE Select NP_000531.2:n.14304-16_14304-11del
NM_001042723.2:c.14289-16_14289-11del NP_001036188.1:n.14289-16_14289-11del
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