Canonical Allele Identifier: CA082520
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502531_38502532insTGGCGC , CM000681.2:g.38502531_38502532insTGGCGC GRCh38
NC_000019.9:g.38993171_38993172insTGGCGC , CM000681.1:g.38993171_38993172insTGGCGC GRCh37
NC_000019.8:g.43685011_43685012insTGGCGC NCBI36
NG_008866.1:g.73832_73833insTGGCGC , LRG_766:g.73832_73833insTGGCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7639_7640insTGGCGC ENSP00000471601.2:p.Ala2547delinsValAlaPro
ENST00000359596.8:c.7639_7640insTGGCGC MANE Select ENSP00000352608.2:p.Ala2547delinsValAlaPro
ENST00000355481.8:c.7639_7640insTGGCGC ENSP00000347667.3:p.Ala2547delinsValAlaPro
ENST00000359596.7:c.7639_7640insTGGCGC ENSP00000352608.2:p.Ala2547delinsValAlaPro
ENST00000360985.7:c.7636_7637insTGGCGC ENSP00000354254.4:p.Ala2546delinsValAlaPro
ENST00000594335.5:c.1091_1092insTGGCGC
NM_000540.2:c.7639_7640insTGGCGC , LRG_766t1:c.7639_7640insTGGCGC NP_000531.2:p.Ala2547delinsValAlaPro
NM_001042723.1:c.7639_7640insTGGCGC NP_001036188.1:p.Ala2547delinsValAlaPro
XM_006723317.1:c.7639_7640insTGGCGC XP_006723380.1:p.Ala2547delinsValAlaPro
XM_006723319.1:c.7639_7640insTGGCGC XP_006723382.1:p.Ala2547delinsValAlaPro
XM_011527204.1:c.7636_7637insTGGCGC XP_011525506.1:p.Ala2546delinsValAlaPro
XM_011527205.1:c.7639_7640insTGGCGC XP_011525507.1:p.Ala2547delinsValAlaPro
XM_006723317.2:c.7639_7640insTGGCGC XP_006723380.1:p.Ala2547delinsValAlaPro
XM_006723319.2:c.7639_7640insTGGCGC XP_006723382.1:p.Ala2547delinsValAlaPro
XM_011527205.2:c.7639_7640insTGGCGC XP_011525507.1:p.Ala2547delinsValAlaPro
XR_001753735.1:n.7722_7723insTGGCGC
NM_000540.3:c.7639_7640insTGGCGC MANE Select NP_000531.2:p.Ala2547delinsValAlaPro
NM_001042723.2:c.7639_7640insTGGCGC NP_001036188.1:p.Ala2547delinsValAlaPro
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