Canonical Allele Identifier: CA2335054414
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502675_38502683delinsCTCACCAAG , CM000681.2:g.38502675_38502683delinsCTCACCAAG GRCh38
NC_000019.9:g.38993315_38993323delinsCTCACCAAG , CM000681.1:g.38993315_38993323delinsCTCACCAAG GRCh37
NC_000019.8:g.43685155_43685163delinsCTCACCAAG NCBI36
NG_008866.1:g.73976_73984delinsCTCACCAAG , LRG_766:g.73976_73984delinsCTCACCAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7783_7791delinsCTCACCAAG ENSP00000471601.2:p.Leu2595=
ENST00000359596.8:c.7783_7791delinsCTCACCAAG MANE Select ENSP00000352608.2:p.Leu2595=
ENST00000355481.8:c.7783_7791delinsCTCACCAAG ENSP00000347667.3:p.Leu2595=
ENST00000359596.7:c.7783_7791delinsCTCACCAAG ENSP00000352608.2:p.Leu2595=
ENST00000360985.7:c.7780_7788delinsCTCACCAAG ENSP00000354254.4:p.Leu2594=
ENST00000594335.5:c.1235_1243delinsCTCACCAAG
NM_000540.2:c.7783_7791delinsCTCACCAAG , LRG_766t1:c.7783_7791delinsCTCACCAAG NP_000531.2:p.Leu2595=
NM_001042723.1:c.7783_7791delinsCTCACCAAG NP_001036188.1:p.Leu2595=
XM_006723317.1:c.7783_7791delinsCTCACCAAG XP_006723380.1:p.Leu2595=
XM_006723319.1:c.7783_7791delinsCTCACCAAG XP_006723382.1:p.Leu2595=
XM_011527204.1:c.7780_7788delinsCTCACCAAG XP_011525506.1:p.Leu2594=
XM_011527205.1:c.7783_7791delinsCTCACCAAG XP_011525507.1:p.Leu2595=
XM_006723317.2:c.7783_7791delinsCTCACCAAG XP_006723380.1:p.Leu2595=
XM_006723319.2:c.7783_7791delinsCTCACCAAG XP_006723382.1:p.Leu2595=
XM_011527205.2:c.7783_7791delinsCTCACCAAG XP_011525507.1:p.Leu2595=
XR_001753735.1:n.7866_7874delinsCTCACCAAG
NM_000540.3:c.7783_7791delinsCTCACCAAG MANE Select NP_000531.2:p.Leu2595=
NM_001042723.2:c.7783_7791delinsCTCACCAAG NP_001036188.1:p.Leu2595=
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