Canonical Allele Identifier: CA2584900855
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502801-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502801_38502802insA , CM000681.2:g.38502801_38502802insA GRCh38
NC_000019.9:g.38993441_38993442insA , CM000681.1:g.38993441_38993442insA GRCh37
NC_000019.8:g.43685281_43685282insA NCBI36
NG_008866.1:g.74102_74103insA , LRG_766:g.74102_74103insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+74_7835+75insA ENSP00000471601.2:n.7835+74_7835+75insA
ENST00000359596.8:c.7835+74_7835+75insA MANE Select ENSP00000352608.2:n.7835+74_7835+75insA
ENST00000355481.8:c.7835+74_7835+75insA ENSP00000347667.3:n.7835+74_7835+75insA
ENST00000359596.7:c.7835+74_7835+75insA ENSP00000352608.2:n.7835+74_7835+75insA
ENST00000360985.7:c.7832+74_7832+75insA ENSP00000354254.4:n.7832+74_7832+75insA
ENST00000594335.5:c.1287+74_1287+75insA
NM_000540.2:c.7835+74_7835+75insA , LRG_766t1:c.7835+74_7835+75insA NP_000531.2:n.7835+74_7835+75insA
NM_001042723.1:c.7835+74_7835+75insA NP_001036188.1:n.7835+74_7835+75insA
XM_006723317.1:c.7835+74_7835+75insA XP_006723380.1:n.7835+74_7835+75insA
XM_006723319.1:c.7835+74_7835+75insA XP_006723382.1:n.7835+74_7835+75insA
XM_011527204.1:c.7832+74_7832+75insA XP_011525506.1:n.7832+74_7832+75insA
XM_011527205.1:c.7835+74_7835+75insA XP_011525507.1:n.7835+74_7835+75insA
XM_006723317.2:c.7835+74_7835+75insA XP_006723380.1:n.7835+74_7835+75insA
XM_006723319.2:c.7835+74_7835+75insA XP_006723382.1:n.7835+74_7835+75insA
XM_011527205.2:c.7835+74_7835+75insA XP_011525507.1:n.7835+74_7835+75insA
XR_001753735.1:n.7918+74_7918+75insA
NM_000540.3:c.7835+74_7835+75insA MANE Select NP_000531.2:n.7835+74_7835+75insA
NM_001042723.2:c.7835+74_7835+75insA NP_001036188.1:n.7835+74_7835+75insA
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