Canonical Allele Identifier: CA2584910613
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38577911-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577912del , CM000681.2:g.38577912del GRCh38
NC_000019.9:g.39068552del , CM000681.1:g.39068552del GRCh37
NC_000019.8:g.43760392del NCBI36
NG_008866.1:g.149213del , LRG_766:g.149213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1109-6del
ENST00000688602.1:c.2506-6del
ENST00000689936.1:c.2478-6del
ENST00000359596.8:c.14173-6del MANE Select ENSP00000352608.2:n.14173-6del
ENST00000355481.8:c.14158-6del ENSP00000347667.3:n.14158-6del
ENST00000359596.7:c.14173-6del ENSP00000352608.2:n.14173-6del
ENST00000360985.7:c.14155-6del ENSP00000354254.4:n.14155-6del
NM_000540.2:c.14173-6del , LRG_766t1:c.14173-6del NP_000531.2:n.14173-6del
NM_001042723.1:c.14158-6del NP_001036188.1:n.14158-6del
XM_006723317.1:c.14155-6del XP_006723380.1:n.14155-6del
XM_006723319.1:c.14140-6del XP_006723382.1:n.14140-6del
XM_011527204.1:c.14170-6del XP_011525506.1:n.14170-6del
XM_011527205.1:c.14086-6del XP_011525507.1:n.14086-6del
XM_006723317.2:c.14155-6del XP_006723380.1:n.14155-6del
XM_006723319.2:c.14140-6del XP_006723382.1:n.14140-6del
XM_011527205.2:c.14086-6del XP_011525507.1:n.14086-6del
NM_000540.3:c.14173-6del MANE Select NP_000531.2:n.14173-6del
NM_001042723.2:c.14158-6del NP_001036188.1:n.14158-6del
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