Canonical Allele Identifier: CA882051645
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1430016984
gnomAD v3: 19-38499964-CCTT-C
gnomAD v4: 19-38499964-CCTT-C
MyVariant Identifiers: chr19:g.38990605_38990607del (hg19) chr19:g.38499965_38499967del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499967_38499969del , CM000681.2:g.38499967_38499969del GRCh38
NC_000019.9:g.38990607_38990609del , CM000681.1:g.38990607_38990609del GRCh37
NC_000019.8:g.43682447_43682449del NCBI36
NG_008866.1:g.71268_71270del , LRG_766:g.71268_71270del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7274_7276del ENSP00000471601.2:p.Phe2425del
ENST00000359596.8:c.7274_7276del MANE Select ENSP00000352608.2:p.Phe2425del
ENST00000355481.8:c.7274_7276del ENSP00000347667.3:p.Phe2425del
ENST00000359596.7:c.7274_7276del ENSP00000352608.2:p.Phe2425del
ENST00000360985.7:c.7271_7273del ENSP00000354254.4:p.Phe2424del
ENST00000594335.5:c.726_728del
NM_000540.2:c.7274_7276del , LRG_766t1:c.7274_7276del NP_000531.2:p.Phe2425del
NM_001042723.1:c.7274_7276del NP_001036188.1:p.Phe2425del
XM_006723317.1:c.7274_7276del XP_006723380.1:p.Phe2425del
XM_006723319.1:c.7274_7276del XP_006723382.1:p.Phe2425del
XM_011527204.1:c.7271_7273del XP_011525506.1:p.Phe2424del
XM_011527205.1:c.7274_7276del XP_011525507.1:p.Phe2425del
XM_006723317.2:c.7274_7276del XP_006723380.1:p.Phe2425del
XM_006723319.2:c.7274_7276del XP_006723382.1:p.Phe2425del
XM_011527205.2:c.7274_7276del XP_011525507.1:p.Phe2425del
XR_001753735.1:n.7357_7359del
NM_000540.3:c.7274_7276del MANE Select NP_000531.2:p.Phe2425del
NM_001042723.2:c.7274_7276del NP_001036188.1:p.Phe2425del
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