Canonical Allele Identifier: CA2335091351
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578077_38578078delinsTG , CM000681.2:g.38578077_38578078delinsTG GRCh38
NC_000019.9:g.39068717_39068718delinsTG , CM000681.1:g.39068717_39068718delinsTG GRCh37
NC_000019.8:g.43760557_43760558delinsTG NCBI36
NG_008866.1:g.149378_149379delinsTG , LRG_766:g.149378_149379delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1239+29_1239+30delinsTG
ENST00000688602.1:c.2636+29_2636+30delinsTG
ENST00000689936.1:c.2608+29_2608+30delinsTG
ENST00000359596.8:c.14303+29_14303+30delinsTG MANE Select ENSP00000352608.2:n.14303+29_14303+30delinsTG
ENST00000355481.8:c.14288+29_14288+30delinsTG ENSP00000347667.3:n.14288+29_14288+30delinsTG
ENST00000359596.7:c.14303+29_14303+30delinsTG ENSP00000352608.2:n.14303+29_14303+30delinsTG
ENST00000360985.7:c.14285+29_14285+30delinsTG ENSP00000354254.4:n.14285+29_14285+30delinsTG
NM_000540.2:c.14303+29_14303+30delinsTG , LRG_766t1:c.14303+29_14303+30delinsTG NP_000531.2:n.14303+29_14303+30delinsTG
NM_001042723.1:c.14288+29_14288+30delinsTG NP_001036188.1:n.14288+29_14288+30delinsTG
XM_006723317.1:c.14285+29_14285+30delinsTG XP_006723380.1:n.14285+29_14285+30delinsTG
XM_006723319.1:c.14270+29_14270+30delinsTG XP_006723382.1:n.14270+29_14270+30delinsTG
XM_011527204.1:c.14300+29_14300+30delinsTG XP_011525506.1:n.14300+29_14300+30delinsTG
XM_011527205.1:c.14216+29_14216+30delinsTG XP_011525507.1:n.14216+29_14216+30delinsTG
XM_006723317.2:c.14285+29_14285+30delinsTG XP_006723380.1:n.14285+29_14285+30delinsTG
XM_006723319.2:c.14270+29_14270+30delinsTG XP_006723382.1:n.14270+29_14270+30delinsTG
XM_011527205.2:c.14216+29_14216+30delinsTG XP_011525507.1:n.14216+29_14216+30delinsTG
NM_000540.3:c.14303+29_14303+30delinsTG MANE Select NP_000531.2:n.14303+29_14303+30delinsTG
NM_001042723.2:c.14288+29_14288+30delinsTG NP_001036188.1:n.14288+29_14288+30delinsTG
Search 100 bp 5'
Search 100 bp 3'