Canonical Allele Identifier: CA2814345148
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455406_38455407insAACCCAAACACACCCAACA , CM000681.2:g.38455406_38455407insAACCCAAACACACCCAACA GRCh38
NC_000019.9:g.38946046_38946047insAACCCAAACACACCCAACA , CM000681.1:g.38946046_38946047insAACCCAAACACACCCAACA GRCh37
NC_000019.8:g.43637886_43637887insAACCCAAACACACCCAACA NCBI36
NG_008866.1:g.26707_26708insAACCCAAACACACCCAACA , LRG_766:g.26707_26708insAACCCAAACACACCCAACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1576+36_1576+37insAACCCAAACACACCCAACA ENSP00000471601.2:n.1576+36_1576+37insAACCCAAACACACCCAACA
ENST00000359596.8:c.1576+36_1576+37insAACCCAAACACACCCAACA MANE Select ENSP00000352608.2:n.1576+36_1576+37insAACCCAAACACACCCAACA
ENST00000355481.8:c.1576+36_1576+37insAACCCAAACACACCCAACA ENSP00000347667.3:n.1576+36_1576+37insAACCCAAACACACCCAACA
ENST00000359596.7:c.1576+36_1576+37insAACCCAAACACACCCAACA ENSP00000352608.2:n.1576+36_1576+37insAACCCAAACACACCCAACA
ENST00000360985.7:c.1576+36_1576+37insAACCCAAACACACCCAACA ENSP00000354254.4:n.1576+36_1576+37insAACCCAAACACACCCAACA
NM_000540.2:c.1576+36_1576+37insAACCCAAACACACCCAACA , LRG_766t1:c.1576+36_1576+37insAACCCAAACACACCCAACA NP_000531.2:n.1576+36_1576+37insAACCCAAACACACCCAACA
NM_001042723.1:c.1576+36_1576+37insAACCCAAACACACCCAACA NP_001036188.1:n.1576+36_1576+37insAACCCAAACACACCCAACA
XM_006723317.1:c.1576+36_1576+37insAACCCAAACACACCCAACA XP_006723380.1:n.1576+36_1576+37insAACCCAAACACACCCAACA
XM_006723319.1:c.1576+36_1576+37insAACCCAAACACACCCAACA XP_006723382.1:n.1576+36_1576+37insAACCCAAACACACCCAACA
XM_011527204.1:c.1573+36_1573+37insAACCCAAACACACCCAACA XP_011525506.1:n.1573+36_1573+37insAACCCAAACACACCCAACA
XM_011527205.1:c.1576+36_1576+37insAACCCAAACACACCCAACA XP_011525507.1:n.1576+36_1576+37insAACCCAAACACACCCAACA
XM_006723317.2:c.1576+36_1576+37insAACCCAAACACACCCAACA XP_006723380.1:n.1576+36_1576+37insAACCCAAACACACCCAACA
XM_006723319.2:c.1576+36_1576+37insAACCCAAACACACCCAACA XP_006723382.1:n.1576+36_1576+37insAACCCAAACACACCCAACA
XM_011527205.2:c.1576+36_1576+37insAACCCAAACACACCCAACA XP_011525507.1:n.1576+36_1576+37insAACCCAAACACACCCAACA
XR_001753735.1:n.1659+36_1659+37insAACCCAAACACACCCAACA
NM_000540.3:c.1576+36_1576+37insAACCCAAACACACCCAACA MANE Select NP_000531.2:n.1576+36_1576+37insAACCCAAACACACCCAACA
NM_001042723.2:c.1576+36_1576+37insAACCCAAACACACCCAACA NP_001036188.1:n.1576+36_1576+37insAACCCAAACACACCCAACA
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