Canonical Allele Identifier: CA2335027092
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38446461_38446462delinsCT , CM000681.2:g.38446461_38446462delinsCT GRCh38
NC_000019.9:g.38937101_38937102delinsCT , CM000681.1:g.38937101_38937102delinsCT GRCh37
NC_000019.8:g.43628941_43628942delinsCT NCBI36
NG_008866.1:g.17762_17763delinsCT , LRG_766:g.17762_17763delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.632-11_632-10delinsCT ENSP00000471601.2:n.632-11_632-10delinsCT
ENST00000359596.8:c.632-11_632-10delinsCT MANE Select ENSP00000352608.2:n.632-11_632-10delinsCT
ENST00000355481.8:c.632-11_632-10delinsCT ENSP00000347667.3:n.632-11_632-10delinsCT
ENST00000359596.7:c.632-11_632-10delinsCT ENSP00000352608.2:n.632-11_632-10delinsCT
ENST00000360985.7:c.632-11_632-10delinsCT ENSP00000354254.4:n.632-11_632-10delinsCT
NM_000540.2:c.632-11_632-10delinsCT , LRG_766t1:c.632-11_632-10delinsCT NP_000531.2:n.632-11_632-10delinsCT
NM_001042723.1:c.632-11_632-10delinsCT NP_001036188.1:n.632-11_632-10delinsCT
XM_006723317.1:c.632-11_632-10delinsCT XP_006723380.1:n.632-11_632-10delinsCT
XM_006723319.1:c.632-11_632-10delinsCT XP_006723382.1:n.632-11_632-10delinsCT
XM_011527204.1:c.632-11_632-10delinsCT XP_011525506.1:n.632-11_632-10delinsCT
XM_011527205.1:c.632-11_632-10delinsCT XP_011525507.1:n.632-11_632-10delinsCT
XM_006723317.2:c.632-11_632-10delinsCT XP_006723380.1:n.632-11_632-10delinsCT
XM_006723319.2:c.632-11_632-10delinsCT XP_006723382.1:n.632-11_632-10delinsCT
XM_011527205.2:c.632-11_632-10delinsCT XP_011525507.1:n.632-11_632-10delinsCT
XR_001753735.1:n.715-11_715-10delinsCT
NM_000540.3:c.632-11_632-10delinsCT MANE Select NP_000531.2:n.632-11_632-10delinsCT
NM_001042723.2:c.632-11_632-10delinsCT NP_001036188.1:n.632-11_632-10delinsCT
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