Canonical Allele Identifier: CA2335054571
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502775_38502809delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , CM000681.2:g.38502775_38502809delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG GRCh38
NC_000019.9:g.38993415_38993449delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , CM000681.1:g.38993415_38993449delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG GRCh37
NC_000019.8:g.43685255_43685289delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG NCBI36
NG_008866.1:g.74076_74110delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , LRG_766:g.74076_74110delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG ENSP00000471601.2:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAG...
ENST00000359596.8:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG MANE Select ENSP00000352608.2:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAG...
ENST00000355481.8:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG ENSP00000347667.3:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAG...
ENST00000359596.7:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG ENSP00000352608.2:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAG...
ENST00000360985.7:c.7832+48_7833-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG ENSP00000354254.4:n.7832+48_7833-71delinsAGGGGCAGGGGCAGGGGCAG...
ENST00000594335.5:c.1287+48_1288-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
NM_000540.2:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , LRG_766t1:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG NP_000531.2:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAG...
NM_001042723.1:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG NP_001036188.1:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGG...
XM_006723317.1:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG XP_006723380.1:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGG...
XM_006723319.1:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG XP_006723382.1:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGG...
XM_011527204.1:c.7832+48_7833-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG XP_011525506.1:n.7832+48_7833-71delinsAGGGGCAGGGGCAGGGGCAGGGG...
XM_011527205.1:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG XP_011525507.1:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGG...
XM_006723317.2:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG XP_006723380.1:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGG...
XM_006723319.2:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG XP_006723382.1:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGG...
XM_011527205.2:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG XP_011525507.1:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGG...
XR_001753735.1:n.7918+48_7919-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
NM_000540.3:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG MANE Select NP_000531.2:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAG...
NM_001042723.2:c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG NP_001036188.1:n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGG...