Canonical Allele Identifier: CA2584901129
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502944-AACG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502946_38502948del , CM000681.2:g.38502946_38502948del GRCh38
NC_000019.9:g.38993586_38993588del , CM000681.1:g.38993586_38993588del GRCh37
NC_000019.8:g.43685426_43685428del NCBI36
NG_008866.1:g.74247_74249del , LRG_766:g.74247_74249del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7902_7904del ENSP00000471601.2:p.Asn2634_Glu2635delinsLys
ENST00000359596.8:c.7902_7904del MANE Select ENSP00000352608.2:p.Asn2634_Glu2635delinsLys
ENST00000355481.8:c.7902_7904del ENSP00000347667.3:p.Asn2634_Glu2635delinsLys
ENST00000359596.7:c.7902_7904del ENSP00000352608.2:p.Asn2634_Glu2635delinsLys
ENST00000360985.7:c.7899_7901del ENSP00000354254.4:p.Asn2633_Glu2634delinsLys
ENST00000594335.5:c.1354_1356del
NM_000540.2:c.7902_7904del , LRG_766t1:c.7902_7904del NP_000531.2:p.Asn2634_Glu2635delinsLys
NM_001042723.1:c.7902_7904del NP_001036188.1:p.Asn2634_Glu2635delinsLys
XM_006723317.1:c.7902_7904del XP_006723380.1:p.Asn2634_Glu2635delinsLys
XM_006723319.1:c.7902_7904del XP_006723382.1:p.Asn2634_Glu2635delinsLys
XM_011527204.1:c.7899_7901del XP_011525506.1:p.Asn2633_Glu2634delinsLys
XM_011527205.1:c.7902_7904del XP_011525507.1:p.Asn2634_Glu2635delinsLys
XM_006723317.2:c.7902_7904del XP_006723380.1:p.Asn2634_Glu2635delinsLys
XM_006723319.2:c.7902_7904del XP_006723382.1:p.Asn2634_Glu2635delinsLys
XM_011527205.2:c.7902_7904del XP_011525507.1:p.Asn2634_Glu2635delinsLys
XR_001753735.1:n.7985_7987del
NM_000540.3:c.7902_7904del MANE Select NP_000531.2:p.Asn2634_Glu2635delinsLys
NM_001042723.2:c.7902_7904del NP_001036188.1:p.Asn2634_Glu2635delinsLys
Search 100 bp 5'
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