Canonical Allele Identifier: CA2335053127
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38500179_38500180delinsGT , CM000681.2:g.38500179_38500180delinsGT GRCh38
NC_000019.9:g.38990819_38990820delinsGT , CM000681.1:g.38990819_38990820delinsGT GRCh37
NC_000019.8:g.43682659_43682660delinsGT NCBI36
NG_008866.1:g.71480_71481delinsGT , LRG_766:g.71480_71481delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7323+163_7323+164delinsGT ENSP00000471601.2:n.7323+163_7323+164delinsGT
ENST00000359596.8:c.7323+163_7323+164delinsGT MANE Select ENSP00000352608.2:n.7323+163_7323+164delinsGT
ENST00000355481.8:c.7323+163_7323+164delinsGT ENSP00000347667.3:n.7323+163_7323+164delinsGT
ENST00000359596.7:c.7323+163_7323+164delinsGT ENSP00000352608.2:n.7323+163_7323+164delinsGT
ENST00000360985.7:c.7320+163_7320+164delinsGT ENSP00000354254.4:n.7320+163_7320+164delinsGT
ENST00000594335.5:c.775+163_775+164delinsGT
NM_000540.2:c.7323+163_7323+164delinsGT , LRG_766t1:c.7323+163_7323+164delinsGT NP_000531.2:n.7323+163_7323+164delinsGT
NM_001042723.1:c.7323+163_7323+164delinsGT NP_001036188.1:n.7323+163_7323+164delinsGT
XM_006723317.1:c.7323+163_7323+164delinsGT XP_006723380.1:n.7323+163_7323+164delinsGT
XM_006723319.1:c.7323+163_7323+164delinsGT XP_006723382.1:n.7323+163_7323+164delinsGT
XM_011527204.1:c.7320+163_7320+164delinsGT XP_011525506.1:n.7320+163_7320+164delinsGT
XM_011527205.1:c.7323+163_7323+164delinsGT XP_011525507.1:n.7323+163_7323+164delinsGT
XM_006723317.2:c.7323+163_7323+164delinsGT XP_006723380.1:n.7323+163_7323+164delinsGT
XM_006723319.2:c.7323+163_7323+164delinsGT XP_006723382.1:n.7323+163_7323+164delinsGT
XM_011527205.2:c.7323+163_7323+164delinsGT XP_011525507.1:n.7323+163_7323+164delinsGT
XR_001753735.1:n.7406+163_7406+164delinsGT
NM_000540.3:c.7323+163_7323+164delinsGT MANE Select NP_000531.2:n.7323+163_7323+164delinsGT
NM_001042723.2:c.7323+163_7323+164delinsGT NP_001036188.1:n.7323+163_7323+164delinsGT
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