Canonical Allele Identifier: CA2814345167
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455445_38455446insACACCCAA , CM000681.2:g.38455445_38455446insACACCCAA GRCh38
NC_000019.9:g.38946085_38946086insACACCCAA , CM000681.1:g.38946085_38946086insACACCCAA GRCh37
NC_000019.8:g.43637925_43637926insACACCCAA NCBI36
NG_008866.1:g.26746_26747insACACCCAA , LRG_766:g.26746_26747insACACCCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1577-6_1577-5insACACCCAA ENSP00000471601.2:n.1577-6_1577-5insACACCCAA
ENST00000359596.8:c.1577-6_1577-5insACACCCAA MANE Select ENSP00000352608.2:n.1577-6_1577-5insACACCCAA
ENST00000355481.8:c.1577-6_1577-5insACACCCAA ENSP00000347667.3:n.1577-6_1577-5insACACCCAA
ENST00000359596.7:c.1577-6_1577-5insACACCCAA ENSP00000352608.2:n.1577-6_1577-5insACACCCAA
ENST00000360985.7:c.1577-6_1577-5insACACCCAA ENSP00000354254.4:n.1577-6_1577-5insACACCCAA
NM_000540.2:c.1577-6_1577-5insACACCCAA , LRG_766t1:c.1577-6_1577-5insACACCCAA NP_000531.2:n.1577-6_1577-5insACACCCAA
NM_001042723.1:c.1577-6_1577-5insACACCCAA NP_001036188.1:n.1577-6_1577-5insACACCCAA
XM_006723317.1:c.1577-6_1577-5insACACCCAA XP_006723380.1:n.1577-6_1577-5insACACCCAA
XM_006723319.1:c.1577-6_1577-5insACACCCAA XP_006723382.1:n.1577-6_1577-5insACACCCAA
XM_011527204.1:c.1574-6_1574-5insACACCCAA XP_011525506.1:n.1574-6_1574-5insACACCCAA
XM_011527205.1:c.1577-6_1577-5insACACCCAA XP_011525507.1:n.1577-6_1577-5insACACCCAA
XM_006723317.2:c.1577-6_1577-5insACACCCAA XP_006723380.1:n.1577-6_1577-5insACACCCAA
XM_006723319.2:c.1577-6_1577-5insACACCCAA XP_006723382.1:n.1577-6_1577-5insACACCCAA
XM_011527205.2:c.1577-6_1577-5insACACCCAA XP_011525507.1:n.1577-6_1577-5insACACCCAA
XR_001753735.1:n.1660-6_1660-5insACACCCAA
NM_000540.3:c.1577-6_1577-5insACACCCAA MANE Select NP_000531.2:n.1577-6_1577-5insACACCCAA
NM_001042723.2:c.1577-6_1577-5insACACCCAA NP_001036188.1:n.1577-6_1577-5insACACCCAA
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