Canonical Allele Identifier: CA2584900631
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502750-G-GGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502750_38502751insGGC , CM000681.2:g.38502750_38502751insGGC GRCh38
NC_000019.9:g.38993390_38993391insGGC , CM000681.1:g.38993390_38993391insGGC GRCh37
NC_000019.8:g.43685230_43685231insGGC NCBI36
NG_008866.1:g.74051_74052insGGC , LRG_766:g.74051_74052insGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+23_7835+24insGGC ENSP00000471601.2:n.7835+23_7835+24insGGC
ENST00000359596.8:c.7835+23_7835+24insGGC MANE Select ENSP00000352608.2:n.7835+23_7835+24insGGC
ENST00000355481.8:c.7835+23_7835+24insGGC ENSP00000347667.3:n.7835+23_7835+24insGGC
ENST00000359596.7:c.7835+23_7835+24insGGC ENSP00000352608.2:n.7835+23_7835+24insGGC
ENST00000360985.7:c.7832+23_7832+24insGGC ENSP00000354254.4:n.7832+23_7832+24insGGC
ENST00000594335.5:c.1287+23_1287+24insGGC
NM_000540.2:c.7835+23_7835+24insGGC , LRG_766t1:c.7835+23_7835+24insGGC NP_000531.2:n.7835+23_7835+24insGGC
NM_001042723.1:c.7835+23_7835+24insGGC NP_001036188.1:n.7835+23_7835+24insGGC
XM_006723317.1:c.7835+23_7835+24insGGC XP_006723380.1:n.7835+23_7835+24insGGC
XM_006723319.1:c.7835+23_7835+24insGGC XP_006723382.1:n.7835+23_7835+24insGGC
XM_011527204.1:c.7832+23_7832+24insGGC XP_011525506.1:n.7832+23_7832+24insGGC
XM_011527205.1:c.7835+23_7835+24insGGC XP_011525507.1:n.7835+23_7835+24insGGC
XM_006723317.2:c.7835+23_7835+24insGGC XP_006723380.1:n.7835+23_7835+24insGGC
XM_006723319.2:c.7835+23_7835+24insGGC XP_006723382.1:n.7835+23_7835+24insGGC
XM_011527205.2:c.7835+23_7835+24insGGC XP_011525507.1:n.7835+23_7835+24insGGC
XR_001753735.1:n.7918+23_7918+24insGGC
NM_000540.3:c.7835+23_7835+24insGGC MANE Select NP_000531.2:n.7835+23_7835+24insGGC
NM_001042723.2:c.7835+23_7835+24insGGC NP_001036188.1:n.7835+23_7835+24insGGC
Search 100 bp 5'
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