Canonical Allele Identifier: CA913189012
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577916_38577917del , CM000681.2:g.38577916_38577917del GRCh38
NC_000019.9:g.39068556_39068557del , CM000681.1:g.39068556_39068557del GRCh37
NC_000019.8:g.43760396_43760397del NCBI36
NG_008866.1:g.149217_149218del , LRG_766:g.149217_149218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1109-2_1109-1del
ENST00000688602.1:c.2506-2_2506-1del
ENST00000689936.1:c.2478-2_2478-1del
ENST00000359596.8:c.14173-2_14173-1del MANE Select ENSP00000352608.2:n.14173-2_14173-1del
ENST00000355481.8:c.14158-2_14158-1del ENSP00000347667.3:n.14158-2_14158-1del
ENST00000359596.7:c.14173-2_14173-1del ENSP00000352608.2:n.14173-2_14173-1del
ENST00000360985.7:c.14155-2_14155-1del ENSP00000354254.4:n.14155-2_14155-1del
NM_000540.2:c.14173-2_14173-1del , LRG_766t1:c.14173-2_14173-1del NP_000531.2:n.14173-2_14173-1del
NM_001042723.1:c.14158-2_14158-1del NP_001036188.1:n.14158-2_14158-1del
XM_006723317.1:c.14155-2_14155-1del XP_006723380.1:n.14155-2_14155-1del
XM_006723319.1:c.14140-2_14140-1del XP_006723382.1:n.14140-2_14140-1del
XM_011527204.1:c.14170-2_14170-1del XP_011525506.1:n.14170-2_14170-1del
XM_011527205.1:c.14086-2_14086-1del XP_011525507.1:n.14086-2_14086-1del
XM_006723317.2:c.14155-2_14155-1del XP_006723380.1:n.14155-2_14155-1del
XM_006723319.2:c.14140-2_14140-1del XP_006723382.1:n.14140-2_14140-1del
XM_011527205.2:c.14086-2_14086-1del XP_011525507.1:n.14086-2_14086-1del
NM_000540.3:c.14173-2_14173-1del MANE Select NP_000531.2:n.14173-2_14173-1del
NM_001042723.2:c.14158-2_14158-1del NP_001036188.1:n.14158-2_14158-1del
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