Canonical Allele Identifier: CA2335054506
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502754_38502756delinsGGC , CM000681.2:g.38502754_38502756delinsGGC GRCh38
NC_000019.9:g.38993394_38993396delinsGGC , CM000681.1:g.38993394_38993396delinsGGC GRCh37
NC_000019.8:g.43685234_43685236delinsGGC NCBI36
NG_008866.1:g.74055_74057delinsGGC , LRG_766:g.74055_74057delinsGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+27_7835+29delinsGGC ENSP00000471601.2:n.7835+27_7835+29delinsGGC
ENST00000359596.8:c.7835+27_7835+29delinsGGC MANE Select ENSP00000352608.2:n.7835+27_7835+29delinsGGC
ENST00000355481.8:c.7835+27_7835+29delinsGGC ENSP00000347667.3:n.7835+27_7835+29delinsGGC
ENST00000359596.7:c.7835+27_7835+29delinsGGC ENSP00000352608.2:n.7835+27_7835+29delinsGGC
ENST00000360985.7:c.7832+27_7832+29delinsGGC ENSP00000354254.4:n.7832+27_7832+29delinsGGC
ENST00000594335.5:c.1287+27_1287+29delinsGGC
NM_000540.2:c.7835+27_7835+29delinsGGC , LRG_766t1:c.7835+27_7835+29delinsGGC NP_000531.2:n.7835+27_7835+29delinsGGC
NM_001042723.1:c.7835+27_7835+29delinsGGC NP_001036188.1:n.7835+27_7835+29delinsGGC
XM_006723317.1:c.7835+27_7835+29delinsGGC XP_006723380.1:n.7835+27_7835+29delinsGGC
XM_006723319.1:c.7835+27_7835+29delinsGGC XP_006723382.1:n.7835+27_7835+29delinsGGC
XM_011527204.1:c.7832+27_7832+29delinsGGC XP_011525506.1:n.7832+27_7832+29delinsGGC
XM_011527205.1:c.7835+27_7835+29delinsGGC XP_011525507.1:n.7835+27_7835+29delinsGGC
XM_006723317.2:c.7835+27_7835+29delinsGGC XP_006723380.1:n.7835+27_7835+29delinsGGC
XM_006723319.2:c.7835+27_7835+29delinsGGC XP_006723382.1:n.7835+27_7835+29delinsGGC
XM_011527205.2:c.7835+27_7835+29delinsGGC XP_011525507.1:n.7835+27_7835+29delinsGGC
XR_001753735.1:n.7918+27_7918+29delinsGGC
NM_000540.3:c.7835+27_7835+29delinsGGC MANE Select NP_000531.2:n.7835+27_7835+29delinsGGC
NM_001042723.2:c.7835+27_7835+29delinsGGC NP_001036188.1:n.7835+27_7835+29delinsGGC
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