Canonical Allele Identifier: CA2584900757
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502785-G-GCAGGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502790_38502791insACAGGG , CM000681.2:g.38502790_38502791insACAGGG GRCh38
NC_000019.9:g.38993430_38993431insACAGGG , CM000681.1:g.38993430_38993431insACAGGG GRCh37
NC_000019.8:g.43685270_43685271insACAGGG NCBI36
NG_008866.1:g.74091_74092insACAGGG , LRG_766:g.74091_74092insACAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+63_7835+64insACAGGG ENSP00000471601.2:n.7835+63_7835+64insACAGGG
ENST00000359596.8:c.7835+63_7835+64insACAGGG MANE Select ENSP00000352608.2:n.7835+63_7835+64insACAGGG
ENST00000355481.8:c.7835+63_7835+64insACAGGG ENSP00000347667.3:n.7835+63_7835+64insACAGGG
ENST00000359596.7:c.7835+63_7835+64insACAGGG ENSP00000352608.2:n.7835+63_7835+64insACAGGG
ENST00000360985.7:c.7832+63_7832+64insACAGGG ENSP00000354254.4:n.7832+63_7832+64insACAGGG
ENST00000594335.5:c.1287+63_1287+64insACAGGG
NM_000540.2:c.7835+63_7835+64insACAGGG , LRG_766t1:c.7835+63_7835+64insACAGGG NP_000531.2:n.7835+63_7835+64insACAGGG
NM_001042723.1:c.7835+63_7835+64insACAGGG NP_001036188.1:n.7835+63_7835+64insACAGGG
XM_006723317.1:c.7835+63_7835+64insACAGGG XP_006723380.1:n.7835+63_7835+64insACAGGG
XM_006723319.1:c.7835+63_7835+64insACAGGG XP_006723382.1:n.7835+63_7835+64insACAGGG
XM_011527204.1:c.7832+63_7832+64insACAGGG XP_011525506.1:n.7832+63_7832+64insACAGGG
XM_011527205.1:c.7835+63_7835+64insACAGGG XP_011525507.1:n.7835+63_7835+64insACAGGG
XM_006723317.2:c.7835+63_7835+64insACAGGG XP_006723380.1:n.7835+63_7835+64insACAGGG
XM_006723319.2:c.7835+63_7835+64insACAGGG XP_006723382.1:n.7835+63_7835+64insACAGGG
XM_011527205.2:c.7835+63_7835+64insACAGGG XP_011525507.1:n.7835+63_7835+64insACAGGG
XR_001753735.1:n.7918+63_7918+64insACAGGG
NM_000540.3:c.7835+63_7835+64insACAGGG MANE Select NP_000531.2:n.7835+63_7835+64insACAGGG
NM_001042723.2:c.7835+63_7835+64insACAGGG NP_001036188.1:n.7835+63_7835+64insACAGGG
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