Canonical Allele Identifier: CA2584900673
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502759-G-GCTTCAGGGT
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502759_38502760insCTTCAGGGT , CM000681.2:g.38502759_38502760insCTTCAGGGT GRCh38
NC_000019.9:g.38993399_38993400insCTTCAGGGT , CM000681.1:g.38993399_38993400insCTTCAGGGT GRCh37
NC_000019.8:g.43685239_43685240insCTTCAGGGT NCBI36
NG_008866.1:g.74060_74061insCTTCAGGGT , LRG_766:g.74060_74061insCTTCAGGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+32_7835+33insCTTCAGGGT ENSP00000471601.2:n.7835+32_7835+33insCTTCAGGGT
ENST00000359596.8:c.7835+32_7835+33insCTTCAGGGT MANE Select ENSP00000352608.2:n.7835+32_7835+33insCTTCAGGGT
ENST00000355481.8:c.7835+32_7835+33insCTTCAGGGT ENSP00000347667.3:n.7835+32_7835+33insCTTCAGGGT
ENST00000359596.7:c.7835+32_7835+33insCTTCAGGGT ENSP00000352608.2:n.7835+32_7835+33insCTTCAGGGT
ENST00000360985.7:c.7832+32_7832+33insCTTCAGGGT ENSP00000354254.4:n.7832+32_7832+33insCTTCAGGGT
ENST00000594335.5:c.1287+32_1287+33insCTTCAGGGT
NM_000540.2:c.7835+32_7835+33insCTTCAGGGT , LRG_766t1:c.7835+32_7835+33insCTTCAGGGT NP_000531.2:n.7835+32_7835+33insCTTCAGGGT
NM_001042723.1:c.7835+32_7835+33insCTTCAGGGT NP_001036188.1:n.7835+32_7835+33insCTTCAGGGT
XM_006723317.1:c.7835+32_7835+33insCTTCAGGGT XP_006723380.1:n.7835+32_7835+33insCTTCAGGGT
XM_006723319.1:c.7835+32_7835+33insCTTCAGGGT XP_006723382.1:n.7835+32_7835+33insCTTCAGGGT
XM_011527204.1:c.7832+32_7832+33insCTTCAGGGT XP_011525506.1:n.7832+32_7832+33insCTTCAGGGT
XM_011527205.1:c.7835+32_7835+33insCTTCAGGGT XP_011525507.1:n.7835+32_7835+33insCTTCAGGGT
XM_006723317.2:c.7835+32_7835+33insCTTCAGGGT XP_006723380.1:n.7835+32_7835+33insCTTCAGGGT
XM_006723319.2:c.7835+32_7835+33insCTTCAGGGT XP_006723382.1:n.7835+32_7835+33insCTTCAGGGT
XM_011527205.2:c.7835+32_7835+33insCTTCAGGGT XP_011525507.1:n.7835+32_7835+33insCTTCAGGGT
XR_001753735.1:n.7918+32_7918+33insCTTCAGGGT
NM_000540.3:c.7835+32_7835+33insCTTCAGGGT MANE Select NP_000531.2:n.7835+32_7835+33insCTTCAGGGT
NM_001042723.2:c.7835+32_7835+33insCTTCAGGGT NP_001036188.1:n.7835+32_7835+33insCTTCAGGGT
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