Canonical Allele Identifier: CA082795
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502854_38502855delinsAA , CM000681.2:g.38502854_38502855delinsAA GRCh38
NC_000019.9:g.38993494_38993495delinsAA , CM000681.1:g.38993494_38993495delinsAA GRCh37
NC_000019.8:g.43685334_43685335delinsAA NCBI36
NG_008866.1:g.74155_74156delinsAA , LRG_766:g.74155_74156delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-26_7836-25delinsAA ENSP00000471601.2:n.7836-26_7836-25delinsAA
ENST00000359596.8:c.7836-26_7836-25delinsAA MANE Select ENSP00000352608.2:n.7836-26_7836-25delinsAA
ENST00000355481.8:c.7836-26_7836-25delinsAA ENSP00000347667.3:n.7836-26_7836-25delinsAA
ENST00000359596.7:c.7836-26_7836-25delinsAA ENSP00000352608.2:n.7836-26_7836-25delinsAA
ENST00000360985.7:c.7833-26_7833-25delinsAA ENSP00000354254.4:n.7833-26_7833-25delinsAA
ENST00000594335.5:c.1288-26_1288-25delinsAA
NM_000540.2:c.7836-26_7836-25delinsAA , LRG_766t1:c.7836-26_7836-25delinsAA NP_000531.2:n.7836-26_7836-25delinsAA
NM_001042723.1:c.7836-26_7836-25delinsAA NP_001036188.1:n.7836-26_7836-25delinsAA
XM_006723317.1:c.7836-26_7836-25delinsAA XP_006723380.1:n.7836-26_7836-25delinsAA
XM_006723319.1:c.7836-26_7836-25delinsAA XP_006723382.1:n.7836-26_7836-25delinsAA
XM_011527204.1:c.7833-26_7833-25delinsAA XP_011525506.1:n.7833-26_7833-25delinsAA
XM_011527205.1:c.7836-26_7836-25delinsAA XP_011525507.1:n.7836-26_7836-25delinsAA
XM_006723317.2:c.7836-26_7836-25delinsAA XP_006723380.1:n.7836-26_7836-25delinsAA
XM_006723319.2:c.7836-26_7836-25delinsAA XP_006723382.1:n.7836-26_7836-25delinsAA
XM_011527205.2:c.7836-26_7836-25delinsAA XP_011525507.1:n.7836-26_7836-25delinsAA
XR_001753735.1:n.7919-26_7919-25delinsAA
NM_000540.3:c.7836-26_7836-25delinsAA MANE Select NP_000531.2:n.7836-26_7836-25delinsAA
NM_001042723.2:c.7836-26_7836-25delinsAA NP_001036188.1:n.7836-26_7836-25delinsAA
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