Canonical Allele Identifier: CA2584898015
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38485718-T-TAGACCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485721_38485726dup , CM000681.2:g.38485721_38485726dup GRCh38
NC_000019.9:g.38976361_38976366dup , CM000681.1:g.38976361_38976366dup GRCh37
NC_000019.8:g.43668201_43668206dup NCBI36
NG_008866.1:g.57022_57027dup , LRG_766:g.57022_57027dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5066_5071dup ENSP00000471601.2:p.Gln1690_Ala1691insAspGln
ENST00000359596.8:c.5066_5071dup MANE Select ENSP00000352608.2:p.Gln1690_Ala1691insAspGln
ENST00000355481.8:c.5066_5071dup ENSP00000347667.3:p.Gln1690_Ala1691insAspGln
ENST00000359596.7:c.5066_5071dup ENSP00000352608.2:p.Gln1690_Ala1691insAspGln
ENST00000360985.7:c.5063_5068dup ENSP00000354254.4:p.Gln1689_Ala1690insAspGln
NM_000540.2:c.5066_5071dup , LRG_766t1:c.5066_5071dup NP_000531.2:p.Gln1690_Ala1691insAspGln
NM_001042723.1:c.5066_5071dup NP_001036188.1:p.Gln1690_Ala1691insAspGln
XM_006723317.1:c.5066_5071dup XP_006723380.1:p.Gln1690_Ala1691insAspGln
XM_006723319.1:c.5066_5071dup XP_006723382.1:p.Gln1690_Ala1691insAspGln
XM_011527204.1:c.5063_5068dup XP_011525506.1:p.Gln1689_Ala1690insAspGln
XM_011527205.1:c.5066_5071dup XP_011525507.1:p.Gln1690_Ala1691insAspGln
XM_006723317.2:c.5066_5071dup XP_006723380.1:p.Gln1690_Ala1691insAspGln
XM_006723319.2:c.5066_5071dup XP_006723382.1:p.Gln1690_Ala1691insAspGln
XM_011527205.2:c.5066_5071dup XP_011525507.1:p.Gln1690_Ala1691insAspGln
XR_001753735.1:n.5149_5154dup
NM_000540.3:c.5066_5071dup MANE Select NP_000531.2:p.Gln1690_Ala1691insAspGln
NM_001042723.2:c.5066_5071dup NP_001036188.1:p.Gln1690_Ala1691insAspGln
Search 100 bp 5'
Search 100 bp 3'