Canonical Allele Identifier: CA2335091446
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578263_38578268delinsTCCCAA , CM000681.2:g.38578263_38578268delinsTCCCAA GRCh38
NC_000019.9:g.39068903_39068908delinsTCCCAA , CM000681.1:g.39068903_39068908delinsTCCCAA GRCh37
NC_000019.8:g.43760743_43760748delinsTCCCAA NCBI36
NG_008866.1:g.149564_149569delinsTCCCAA , LRG_766:g.149564_149569delinsTCCCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+59_1300+64delinsTCCCAA
ENST00000688602.1:c.2697+59_2697+64delinsTCCCAA
ENST00000689936.1:c.2669+59_2669+64delinsTCCCAA
ENST00000359596.8:c.14364+59_14364+64delinsTCCCAA MANE Select ENSP00000352608.2:n.14364+59_14364+64delinsTCCCAA
ENST00000355481.8:c.14349+59_14349+64delinsTCCCAA ENSP00000347667.3:n.14349+59_14349+64delinsTCCCAA
ENST00000359596.7:c.14364+59_14364+64delinsTCCCAA ENSP00000352608.2:n.14364+59_14364+64delinsTCCCAA
ENST00000360985.7:c.14346+59_14346+64delinsTCCCAA ENSP00000354254.4:n.14346+59_14346+64delinsTCCCAA
NM_000540.2:c.14364+59_14364+64delinsTCCCAA , LRG_766t1:c.14364+59_14364+64delinsTCCCAA NP_000531.2:n.14364+59_14364+64delinsTCCCAA
NM_001042723.1:c.14349+59_14349+64delinsTCCCAA NP_001036188.1:n.14349+59_14349+64delinsTCCCAA
XM_006723317.1:c.14346+59_14346+64delinsTCCCAA XP_006723380.1:n.14346+59_14346+64delinsTCCCAA
XM_006723319.1:c.14331+59_14331+64delinsTCCCAA XP_006723382.1:n.14331+59_14331+64delinsTCCCAA
XM_011527204.1:c.14361+59_14361+64delinsTCCCAA XP_011525506.1:n.14361+59_14361+64delinsTCCCAA
XM_011527205.1:c.14277+59_14277+64delinsTCCCAA XP_011525507.1:n.14277+59_14277+64delinsTCCCAA
XM_006723317.2:c.14346+59_14346+64delinsTCCCAA XP_006723380.1:n.14346+59_14346+64delinsTCCCAA
XM_006723319.2:c.14331+59_14331+64delinsTCCCAA XP_006723382.1:n.14331+59_14331+64delinsTCCCAA
XM_011527205.2:c.14277+59_14277+64delinsTCCCAA XP_011525507.1:n.14277+59_14277+64delinsTCCCAA
NM_000540.3:c.14364+59_14364+64delinsTCCCAA MANE Select NP_000531.2:n.14364+59_14364+64delinsTCCCAA
NM_001042723.2:c.14349+59_14349+64delinsTCCCAA NP_001036188.1:n.14349+59_14349+64delinsTCCCAA
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