Canonical Allele Identifier: CA2335054641
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502798_38502825delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG , CM000681.2:g.38502798_38502825delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG GRCh38
NC_000019.9:g.38993438_38993465delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG , CM000681.1:g.38993438_38993465delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG GRCh37
NC_000019.8:g.43685278_43685305delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG NCBI36
NG_008866.1:g.74099_74126delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG , LRG_766:g.74099_74126delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG ENSP00000471601.2:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCA...
ENST00000359596.8:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG MANE Select ENSP00000352608.2:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCA...
ENST00000355481.8:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG ENSP00000347667.3:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCA...
ENST00000359596.7:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG ENSP00000352608.2:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCA...
ENST00000360985.7:c.7832+71_7833-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG ENSP00000354254.4:n.7832+71_7833-55delinsCAGGGGCAGGGGGAGGAGCA...
ENST00000594335.5:c.1287+71_1288-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG
NM_000540.2:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG , LRG_766t1:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG NP_000531.2:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCA...
NM_001042723.1:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG NP_001036188.1:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGG...
XM_006723317.1:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG XP_006723380.1:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGG...
XM_006723319.1:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG XP_006723382.1:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGG...
XM_011527204.1:c.7832+71_7833-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG XP_011525506.1:n.7832+71_7833-55delinsCAGGGGCAGGGGGAGGAGCAGGG...
XM_011527205.1:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG XP_011525507.1:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGG...
XM_006723317.2:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG XP_006723380.1:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGG...
XM_006723319.2:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG XP_006723382.1:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGG...
XM_011527205.2:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG XP_011525507.1:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGG...
XR_001753735.1:n.7918+71_7919-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG
NM_000540.3:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG MANE Select NP_000531.2:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCA...
NM_001042723.2:c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG NP_001036188.1:n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGG...
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