Canonical Allele Identifier: CA632874457
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1250308753
gnomAD v2: 19-38989624-GCC-G
gnomAD v3: 19-38498984-GCC-G
gnomAD v4: 19-38498984-GCC-G
MyVariant Identifiers: chr19:g.38989625_38989626del (hg19) chr19:g.38498985_38498986del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38498985_38498986del , CM000681.2:g.38498985_38498986del GRCh38
NC_000019.9:g.38989625_38989626del , CM000681.1:g.38989625_38989626del GRCh37
NC_000019.8:g.43681465_43681466del NCBI36
NG_008866.1:g.70286_70287del , LRG_766:g.70286_70287del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.6892-123_6892-122del ENSP00000471601.2:n.6892-123_6892-122del
ENST00000359596.8:c.6892-123_6892-122del MANE Select ENSP00000352608.2:n.6892-123_6892-122del
ENST00000355481.8:c.6892-123_6892-122del ENSP00000347667.3:n.6892-123_6892-122del
ENST00000359596.7:c.6892-123_6892-122del ENSP00000352608.2:n.6892-123_6892-122del
ENST00000360985.7:c.6889-123_6889-122del ENSP00000354254.4:n.6889-123_6889-122del
ENST00000594335.5:c.344-123_344-122del
NM_000540.2:c.6892-123_6892-122del , LRG_766t1:c.6892-123_6892-122del NP_000531.2:n.6892-123_6892-122del
NM_001042723.1:c.6892-123_6892-122del NP_001036188.1:n.6892-123_6892-122del
XM_006723317.1:c.6892-123_6892-122del XP_006723380.1:n.6892-123_6892-122del
XM_006723319.1:c.6892-123_6892-122del XP_006723382.1:n.6892-123_6892-122del
XM_011527204.1:c.6889-123_6889-122del XP_011525506.1:n.6889-123_6889-122del
XM_011527205.1:c.6892-123_6892-122del XP_011525507.1:n.6892-123_6892-122del
XM_006723317.2:c.6892-123_6892-122del XP_006723380.1:n.6892-123_6892-122del
XM_006723319.2:c.6892-123_6892-122del XP_006723382.1:n.6892-123_6892-122del
XM_011527205.2:c.6892-123_6892-122del XP_011525507.1:n.6892-123_6892-122del
XR_001753735.1:n.6975-123_6975-122del
NM_000540.3:c.6892-123_6892-122del MANE Select NP_000531.2:n.6892-123_6892-122del
NM_001042723.2:c.6892-123_6892-122del NP_001036188.1:n.6892-123_6892-122del
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