Canonical Allele Identifier: CA2584894099
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38455592-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455592_38455593insC , CM000681.2:g.38455592_38455593insC GRCh38
NC_000019.9:g.38946232_38946233insC , CM000681.1:g.38946232_38946233insC GRCh37
NC_000019.8:g.43638072_43638073insC NCBI36
NG_008866.1:g.26893_26894insC , LRG_766:g.26893_26894insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1673-41_1673-40insC ENSP00000471601.2:n.1673-41_1673-40insC
ENST00000359596.8:c.1673-41_1673-40insC MANE Select ENSP00000352608.2:n.1673-41_1673-40insC
ENST00000355481.8:c.1673-41_1673-40insC ENSP00000347667.3:n.1673-41_1673-40insC
ENST00000359596.7:c.1673-41_1673-40insC ENSP00000352608.2:n.1673-41_1673-40insC
ENST00000360985.7:c.1673-41_1673-40insC ENSP00000354254.4:n.1673-41_1673-40insC
NM_000540.2:c.1673-41_1673-40insC , LRG_766t1:c.1673-41_1673-40insC NP_000531.2:n.1673-41_1673-40insC
NM_001042723.1:c.1673-41_1673-40insC NP_001036188.1:n.1673-41_1673-40insC
XM_006723317.1:c.1673-41_1673-40insC XP_006723380.1:n.1673-41_1673-40insC
XM_006723319.1:c.1673-41_1673-40insC XP_006723382.1:n.1673-41_1673-40insC
XM_011527204.1:c.1670-41_1670-40insC XP_011525506.1:n.1670-41_1670-40insC
XM_011527205.1:c.1673-41_1673-40insC XP_011525507.1:n.1673-41_1673-40insC
XM_006723317.2:c.1673-41_1673-40insC XP_006723380.1:n.1673-41_1673-40insC
XM_006723319.2:c.1673-41_1673-40insC XP_006723382.1:n.1673-41_1673-40insC
XM_011527205.2:c.1673-41_1673-40insC XP_011525507.1:n.1673-41_1673-40insC
XR_001753735.1:n.1756-41_1756-40insC
NM_000540.3:c.1673-41_1673-40insC MANE Select NP_000531.2:n.1673-41_1673-40insC
NM_001042723.2:c.1673-41_1673-40insC NP_001036188.1:n.1673-41_1673-40insC
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