Canonical Allele Identifier: CA995710767
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v3: 19-38446434-C-CCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG
gnomAD v4: 19-38446434-C-CCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38446434_38446435insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG , CM000681.2:g.38446434_38446435insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG GRCh38
NC_000019.9:g.38937074_38937075insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG , CM000681.1:g.38937074_38937075insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG GRCh37
NC_000019.8:g.43628914_43628915insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG NCBI36
NG_008866.1:g.17735_17736insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG , LRG_766:g.17735_17736insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG ENSP00000471601.2:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCC...
ENST00000359596.8:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG MANE Select ENSP00000352608.2:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCC...
ENST00000355481.8:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG ENSP00000347667.3:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCC...
ENST00000359596.7:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG ENSP00000352608.2:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCC...
ENST00000360985.7:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG ENSP00000354254.4:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCC...
NM_000540.2:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG , LRG_766t1:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG NP_000531.2:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACC...
NM_001042723.1:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG NP_001036188.1:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACC...
XM_006723317.1:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG XP_006723380.1:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACC...
XM_006723319.1:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG XP_006723382.1:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACC...
XM_011527204.1:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG XP_011525506.1:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACC...
XM_011527205.1:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG XP_011525507.1:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACC...
XM_006723317.2:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG XP_006723380.1:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACC...
XM_006723319.2:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG XP_006723382.1:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACC...
XM_011527205.2:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG XP_011525507.1:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACC...
XR_001753735.1:n.715-38_715-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG
NM_000540.3:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG MANE Select NP_000531.2:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACC...
NM_001042723.2:c.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG NP_001036188.1:n.632-38_632-37insCAAGTAGCTGGGACTACAGACGCCCACC...
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