Canonical Allele Identifier: CA2335054643
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502799_38502828delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC , CM000681.2:g.38502799_38502828delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC GRCh38
NC_000019.9:g.38993439_38993468delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC , CM000681.1:g.38993439_38993468delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC GRCh37
NC_000019.8:g.43685279_43685308delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC NCBI36
NG_008866.1:g.74100_74129delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC , LRG_766:g.74100_74129delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC ENSP00000471601.2:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAG...
ENST00000359596.8:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC MANE Select ENSP00000352608.2:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAG...
ENST00000355481.8:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC ENSP00000347667.3:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAG...
ENST00000359596.7:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC ENSP00000352608.2:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAG...
ENST00000360985.7:c.7832+72_7833-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC ENSP00000354254.4:n.7832+72_7833-52delinsAGGGGCAGGGGGAGGAGCAG...
ENST00000594335.5:c.1287+72_1288-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC
NM_000540.2:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC , LRG_766t1:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC NP_000531.2:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAG...
NM_001042723.1:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC NP_001036188.1:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGG...
XM_006723317.1:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC XP_006723380.1:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGG...
XM_006723319.1:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC XP_006723382.1:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGG...
XM_011527204.1:c.7832+72_7833-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC XP_011525506.1:n.7832+72_7833-52delinsAGGGGCAGGGGGAGGAGCAGGGG...
XM_011527205.1:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC XP_011525507.1:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGG...
XM_006723317.2:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC XP_006723380.1:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGG...
XM_006723319.2:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC XP_006723382.1:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGG...
XM_011527205.2:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC XP_011525507.1:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGG...
XR_001753735.1:n.7918+72_7919-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC
NM_000540.3:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC MANE Select NP_000531.2:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAG...
NM_001042723.2:c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC NP_001036188.1:n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGG...
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