Canonical Allele Identifier: CA2335091484
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578362_38578363delinsCT , CM000681.2:g.38578362_38578363delinsCT GRCh38
NC_000019.9:g.39069002_39069003delinsCT , CM000681.1:g.39069002_39069003delinsCT GRCh37
NC_000019.8:g.43760842_43760843delinsCT NCBI36
NG_008866.1:g.149663_149664delinsCT , LRG_766:g.149663_149664delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+158_1300+159delinsCT
ENST00000688602.1:c.2697+158_2697+159delinsCT
ENST00000689936.1:c.2669+158_2669+159delinsCT
ENST00000359596.8:c.14364+158_14364+159delinsCT MANE Select ENSP00000352608.2:n.14364+158_14364+159delinsCT
ENST00000355481.8:c.14349+158_14349+159delinsCT ENSP00000347667.3:n.14349+158_14349+159delinsCT
ENST00000359596.7:c.14364+158_14364+159delinsCT ENSP00000352608.2:n.14364+158_14364+159delinsCT
ENST00000360985.7:c.14346+158_14346+159delinsCT ENSP00000354254.4:n.14346+158_14346+159delinsCT
NM_000540.2:c.14364+158_14364+159delinsCT , LRG_766t1:c.14364+158_14364+159delinsCT NP_000531.2:n.14364+158_14364+159delinsCT
NM_001042723.1:c.14349+158_14349+159delinsCT NP_001036188.1:n.14349+158_14349+159delinsCT
XM_006723317.1:c.14346+158_14346+159delinsCT XP_006723380.1:n.14346+158_14346+159delinsCT
XM_006723319.1:c.14331+158_14331+159delinsCT XP_006723382.1:n.14331+158_14331+159delinsCT
XM_011527204.1:c.14361+158_14361+159delinsCT XP_011525506.1:n.14361+158_14361+159delinsCT
XM_011527205.1:c.14277+158_14277+159delinsCT XP_011525507.1:n.14277+158_14277+159delinsCT
XM_006723317.2:c.14346+158_14346+159delinsCT XP_006723380.1:n.14346+158_14346+159delinsCT
XM_006723319.2:c.14331+158_14331+159delinsCT XP_006723382.1:n.14331+158_14331+159delinsCT
XM_011527205.2:c.14277+158_14277+159delinsCT XP_011525507.1:n.14277+158_14277+159delinsCT
NM_000540.3:c.14364+158_14364+159delinsCT MANE Select NP_000531.2:n.14364+158_14364+159delinsCT
NM_001042723.2:c.14349+158_14349+159delinsCT NP_001036188.1:n.14349+158_14349+159delinsCT
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