Canonical Allele Identifier: CA2335027067
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38446423_38446424delinsTC , CM000681.2:g.38446423_38446424delinsTC GRCh38
NC_000019.9:g.38937063_38937064delinsTC , CM000681.1:g.38937063_38937064delinsTC GRCh37
NC_000019.8:g.43628903_43628904delinsTC NCBI36
NG_008866.1:g.17724_17725delinsTC , LRG_766:g.17724_17725delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.632-49_632-48delinsTC ENSP00000471601.2:n.632-49_632-48delinsTC
ENST00000359596.8:c.632-49_632-48delinsTC MANE Select ENSP00000352608.2:n.632-49_632-48delinsTC
ENST00000355481.8:c.632-49_632-48delinsTC ENSP00000347667.3:n.632-49_632-48delinsTC
ENST00000359596.7:c.632-49_632-48delinsTC ENSP00000352608.2:n.632-49_632-48delinsTC
ENST00000360985.7:c.632-49_632-48delinsTC ENSP00000354254.4:n.632-49_632-48delinsTC
NM_000540.2:c.632-49_632-48delinsTC , LRG_766t1:c.632-49_632-48delinsTC NP_000531.2:n.632-49_632-48delinsTC
NM_001042723.1:c.632-49_632-48delinsTC NP_001036188.1:n.632-49_632-48delinsTC
XM_006723317.1:c.632-49_632-48delinsTC XP_006723380.1:n.632-49_632-48delinsTC
XM_006723319.1:c.632-49_632-48delinsTC XP_006723382.1:n.632-49_632-48delinsTC
XM_011527204.1:c.632-49_632-48delinsTC XP_011525506.1:n.632-49_632-48delinsTC
XM_011527205.1:c.632-49_632-48delinsTC XP_011525507.1:n.632-49_632-48delinsTC
XM_006723317.2:c.632-49_632-48delinsTC XP_006723380.1:n.632-49_632-48delinsTC
XM_006723319.2:c.632-49_632-48delinsTC XP_006723382.1:n.632-49_632-48delinsTC
XM_011527205.2:c.632-49_632-48delinsTC XP_011525507.1:n.632-49_632-48delinsTC
XR_001753735.1:n.715-49_715-48delinsTC
NM_000540.3:c.632-49_632-48delinsTC MANE Select NP_000531.2:n.632-49_632-48delinsTC
NM_001042723.2:c.632-49_632-48delinsTC NP_001036188.1:n.632-49_632-48delinsTC
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