Canonical Allele Identifier: CA2335054633
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502796_38502798delinsGGC , CM000681.2:g.38502796_38502798delinsGGC GRCh38
NC_000019.9:g.38993436_38993438delinsGGC , CM000681.1:g.38993436_38993438delinsGGC GRCh37
NC_000019.8:g.43685276_43685278delinsGGC NCBI36
NG_008866.1:g.74097_74099delinsGGC , LRG_766:g.74097_74099delinsGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+69_7835+71delinsGGC ENSP00000471601.2:n.7835+69_7835+71delinsGGC
ENST00000359596.8:c.7835+69_7835+71delinsGGC MANE Select ENSP00000352608.2:n.7835+69_7835+71delinsGGC
ENST00000355481.8:c.7835+69_7835+71delinsGGC ENSP00000347667.3:n.7835+69_7835+71delinsGGC
ENST00000359596.7:c.7835+69_7835+71delinsGGC ENSP00000352608.2:n.7835+69_7835+71delinsGGC
ENST00000360985.7:c.7832+69_7832+71delinsGGC ENSP00000354254.4:n.7832+69_7832+71delinsGGC
ENST00000594335.5:c.1287+69_1287+71delinsGGC
NM_000540.2:c.7835+69_7835+71delinsGGC , LRG_766t1:c.7835+69_7835+71delinsGGC NP_000531.2:n.7835+69_7835+71delinsGGC
NM_001042723.1:c.7835+69_7835+71delinsGGC NP_001036188.1:n.7835+69_7835+71delinsGGC
XM_006723317.1:c.7835+69_7835+71delinsGGC XP_006723380.1:n.7835+69_7835+71delinsGGC
XM_006723319.1:c.7835+69_7835+71delinsGGC XP_006723382.1:n.7835+69_7835+71delinsGGC
XM_011527204.1:c.7832+69_7832+71delinsGGC XP_011525506.1:n.7832+69_7832+71delinsGGC
XM_011527205.1:c.7835+69_7835+71delinsGGC XP_011525507.1:n.7835+69_7835+71delinsGGC
XM_006723317.2:c.7835+69_7835+71delinsGGC XP_006723380.1:n.7835+69_7835+71delinsGGC
XM_006723319.2:c.7835+69_7835+71delinsGGC XP_006723382.1:n.7835+69_7835+71delinsGGC
XM_011527205.2:c.7835+69_7835+71delinsGGC XP_011525507.1:n.7835+69_7835+71delinsGGC
XR_001753735.1:n.7918+69_7918+71delinsGGC
NM_000540.3:c.7835+69_7835+71delinsGGC MANE Select NP_000531.2:n.7835+69_7835+71delinsGGC
NM_001042723.2:c.7835+69_7835+71delinsGGC NP_001036188.1:n.7835+69_7835+71delinsGGC
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