Canonical Allele Identifier: CA995717480
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1970202913
gnomAD v3: 19-38502751-TGGGG-T
gnomAD v4: 19-38502751-TGGGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502752_38502755del , CM000681.2:g.38502752_38502755del GRCh38
NC_000019.9:g.38993392_38993395del , CM000681.1:g.38993392_38993395del GRCh37
NC_000019.8:g.43685232_43685235del NCBI36
NG_008866.1:g.74053_74056del , LRG_766:g.74053_74056del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+25_7835+28del ENSP00000471601.2:n.7835+25_7835+28del
ENST00000359596.8:c.7835+25_7835+28del MANE Select ENSP00000352608.2:n.7835+25_7835+28del
ENST00000355481.8:c.7835+25_7835+28del ENSP00000347667.3:n.7835+25_7835+28del
ENST00000359596.7:c.7835+25_7835+28del ENSP00000352608.2:n.7835+25_7835+28del
ENST00000360985.7:c.7832+25_7832+28del ENSP00000354254.4:n.7832+25_7832+28del
ENST00000594335.5:c.1287+25_1287+28del
NM_000540.2:c.7835+25_7835+28del , LRG_766t1:c.7835+25_7835+28del NP_000531.2:n.7835+25_7835+28del
NM_001042723.1:c.7835+25_7835+28del NP_001036188.1:n.7835+25_7835+28del
XM_006723317.1:c.7835+25_7835+28del XP_006723380.1:n.7835+25_7835+28del
XM_006723319.1:c.7835+25_7835+28del XP_006723382.1:n.7835+25_7835+28del
XM_011527204.1:c.7832+25_7832+28del XP_011525506.1:n.7832+25_7832+28del
XM_011527205.1:c.7835+25_7835+28del XP_011525507.1:n.7835+25_7835+28del
XM_006723317.2:c.7835+25_7835+28del XP_006723380.1:n.7835+25_7835+28del
XM_006723319.2:c.7835+25_7835+28del XP_006723382.1:n.7835+25_7835+28del
XM_011527205.2:c.7835+25_7835+28del XP_011525507.1:n.7835+25_7835+28del
XR_001753735.1:n.7918+25_7918+28del
NM_000540.3:c.7835+25_7835+28del MANE Select NP_000531.2:n.7835+25_7835+28del
NM_001042723.2:c.7835+25_7835+28del NP_001036188.1:n.7835+25_7835+28del
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