Canonical Allele Identifier: CA082731
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502918_38502955del , CM000681.2:g.38502918_38502955del GRCh38
NC_000019.9:g.38993558_38993595del , CM000681.1:g.38993558_38993595del GRCh37
NC_000019.8:g.43685398_43685435del NCBI36
NG_008866.1:g.74219_74256del , LRG_766:g.74219_74256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7874_7911del ENSP00000471601.2:p.Arg2625GlnfsTer12
ENST00000359596.8:c.7874_7911del MANE Select ENSP00000352608.2:p.Arg2625GlnfsTer12
ENST00000355481.8:c.7874_7911del ENSP00000347667.3:p.Arg2625GlnfsTer12
ENST00000359596.7:c.7874_7911del ENSP00000352608.2:p.Arg2625GlnfsTer12
ENST00000360985.7:c.7871_7908del ENSP00000354254.4:p.Arg2624GlnfsTer12
ENST00000594335.5:c.1326_1363del
NM_000540.2:c.7874_7911del , LRG_766t1:c.7874_7911del NP_000531.2:p.Arg2625GlnfsTer12
NM_001042723.1:c.7874_7911del NP_001036188.1:p.Arg2625GlnfsTer12
XM_006723317.1:c.7874_7911del XP_006723380.1:p.Arg2625GlnfsTer12
XM_006723319.1:c.7874_7911del XP_006723382.1:p.Arg2625GlnfsTer12
XM_011527204.1:c.7871_7908del XP_011525506.1:p.Arg2624GlnfsTer12
XM_011527205.1:c.7874_7911del XP_011525507.1:p.Arg2625GlnfsTer12
XM_006723317.2:c.7874_7911del XP_006723380.1:p.Arg2625GlnfsTer12
XM_006723319.2:c.7874_7911del XP_006723382.1:p.Arg2625GlnfsTer12
XM_011527205.2:c.7874_7911del XP_011525507.1:p.Arg2625GlnfsTer12
XR_001753735.1:n.7957_7994del
NM_000540.3:c.7874_7911del MANE Select NP_000531.2:p.Arg2625GlnfsTer12
NM_001042723.2:c.7874_7911del NP_001036188.1:p.Arg2625GlnfsTer12
Search 100 bp 5'
Search 100 bp 3'