Canonical Allele Identifier: CA2540190470
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502831-C-CAGGGGCAGGGGGAGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502833_38502834insGGGCAGGGGGAGGAG , CM000681.2:g.38502833_38502834insGGGCAGGGGGAGGAG GRCh38
NC_000019.9:g.38993473_38993474insGGGCAGGGGGAGGAG , CM000681.1:g.38993473_38993474insGGGCAGGGGGAGGAG GRCh37
NC_000019.8:g.43685313_43685314insGGGCAGGGGGAGGAG NCBI36
NG_008866.1:g.74134_74135insGGGCAGGGGGAGGAG , LRG_766:g.74134_74135insGGGCAGGGGGAGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-47_7836-46insGGGCAGGGGGAGGAG ENSP00000471601.2:n.7836-47_7836-46insGGGCAGGGGGAGGAG
ENST00000359596.8:c.7836-47_7836-46insGGGCAGGGGGAGGAG MANE Select ENSP00000352608.2:n.7836-47_7836-46insGGGCAGGGGGAGGAG
ENST00000355481.8:c.7836-47_7836-46insGGGCAGGGGGAGGAG ENSP00000347667.3:n.7836-47_7836-46insGGGCAGGGGGAGGAG
ENST00000359596.7:c.7836-47_7836-46insGGGCAGGGGGAGGAG ENSP00000352608.2:n.7836-47_7836-46insGGGCAGGGGGAGGAG
ENST00000360985.7:c.7833-47_7833-46insGGGCAGGGGGAGGAG ENSP00000354254.4:n.7833-47_7833-46insGGGCAGGGGGAGGAG
ENST00000594335.5:c.1288-47_1288-46insGGGCAGGGGGAGGAG
NM_000540.2:c.7836-47_7836-46insGGGCAGGGGGAGGAG , LRG_766t1:c.7836-47_7836-46insGGGCAGGGGGAGGAG NP_000531.2:n.7836-47_7836-46insGGGCAGGGGGAGGAG
NM_001042723.1:c.7836-47_7836-46insGGGCAGGGGGAGGAG NP_001036188.1:n.7836-47_7836-46insGGGCAGGGGGAGGAG
XM_006723317.1:c.7836-47_7836-46insGGGCAGGGGGAGGAG XP_006723380.1:n.7836-47_7836-46insGGGCAGGGGGAGGAG
XM_006723319.1:c.7836-47_7836-46insGGGCAGGGGGAGGAG XP_006723382.1:n.7836-47_7836-46insGGGCAGGGGGAGGAG
XM_011527204.1:c.7833-47_7833-46insGGGCAGGGGGAGGAG XP_011525506.1:n.7833-47_7833-46insGGGCAGGGGGAGGAG
XM_011527205.1:c.7836-47_7836-46insGGGCAGGGGGAGGAG XP_011525507.1:n.7836-47_7836-46insGGGCAGGGGGAGGAG
XM_006723317.2:c.7836-47_7836-46insGGGCAGGGGGAGGAG XP_006723380.1:n.7836-47_7836-46insGGGCAGGGGGAGGAG
XM_006723319.2:c.7836-47_7836-46insGGGCAGGGGGAGGAG XP_006723382.1:n.7836-47_7836-46insGGGCAGGGGGAGGAG
XM_011527205.2:c.7836-47_7836-46insGGGCAGGGGGAGGAG XP_011525507.1:n.7836-47_7836-46insGGGCAGGGGGAGGAG
XR_001753735.1:n.7919-47_7919-46insGGGCAGGGGGAGGAG
NM_000540.3:c.7836-47_7836-46insGGGCAGGGGGAGGAG MANE Select NP_000531.2:n.7836-47_7836-46insGGGCAGGGGGAGGAG
NM_001042723.2:c.7836-47_7836-46insGGGCAGGGGGAGGAG NP_001036188.1:n.7836-47_7836-46insGGGCAGGGGGAGGAG
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