Canonical Allele Identifier: CA2335074501
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543742_38543743delinsTC , CM000681.2:g.38543742_38543743delinsTC GRCh38
NC_000019.9:g.39034382_39034383delinsTC , CM000681.1:g.39034382_39034383delinsTC GRCh37
NC_000019.8:g.43726222_43726223delinsTC NCBI36
NG_008866.1:g.115043_115044delinsTC , LRG_766:g.115043_115044delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000688602.1:c.318-29_318-28delinsTC
ENST00000689936.1:c.300-29_300-28delinsTC
ENST00000359596.8:c.11908-29_11908-28delinsTC MANE Select ENSP00000352608.2:n.11908-29_11908-28deli...
ENST00000355481.8:c.11893-29_11893-28delinsTC ENSP00000347667.3:n.11893-29_11893-28deli...
ENST00000359596.7:c.11908-29_11908-28delinsTC ENSP00000352608.2:n.11908-29_11908-28deli...
ENST00000360985.7:c.11890-29_11890-28delinsTC ENSP00000354254.4:n.11890-29_11890-28deli...
ENST00000593322.1:c.517-29_517-28delinsTC
ENST00000594335.5:c.5277-29_5277-28delinsTC
NM_000540.2:c.11908-29_11908-28delinsTC , LRG_766t1:c.11908-29_11908-28delinsTC NP_000531.2:n.11908-29_11908-28delinsTC
NM_001042723.1:c.11893-29_11893-28delinsTC NP_001036188.1:n.11893-29_11893-28delinsT...
XM_006723317.1:c.11890-29_11890-28delinsTC XP_006723380.1:n.11890-29_11890-28delinsT...
XM_006723319.1:c.11875-29_11875-28delinsTC XP_006723382.1:n.11875-29_11875-28delinsT...
XM_011527204.1:c.11905-29_11905-28delinsTC XP_011525506.1:n.11905-29_11905-28delinsT...
XM_011527205.1:c.11908-29_11908-28delinsTC XP_011525507.1:n.11908-29_11908-28delinsT...
XM_006723317.2:c.11890-29_11890-28delinsTC XP_006723380.1:n.11890-29_11890-28delinsT...
XM_006723319.2:c.11875-29_11875-28delinsTC XP_006723382.1:n.11875-29_11875-28delinsT...
XM_011527205.2:c.11908-29_11908-28delinsTC XP_011525507.1:n.11908-29_11908-28delinsT...
NM_000540.3:c.11908-29_11908-28delinsTC MANE Select NP_000531.2:n.11908-29_11908-28delinsTC
NM_001042723.2:c.11893-29_11893-28delinsTC NP_001036188.1:n.11893-29_11893-28delinsT...