Canonical Allele Identifier: CA2825002790
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071628
ClinVar RCV Id: RCV004016122
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502930_38502932dup , CM000681.2:g.38502930_38502932dup GRCh38
NC_000019.9:g.38993570_38993572dup , CM000681.1:g.38993570_38993572dup GRCh37
NC_000019.8:g.43685410_43685412dup NCBI36
NG_008866.1:g.74231_74233dup , LRG_766:g.74231_74233dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7886_7888dup ENSP00000471601.2:p.Asp2629_Val2630insAsp
ENST00000359596.8:c.7886_7888dup MANE Select ENSP00000352608.2:p.Asp2629_Val2630insAsp
ENST00000355481.8:c.7886_7888dup ENSP00000347667.3:p.Asp2629_Val2630insAsp
ENST00000359596.7:c.7886_7888dup ENSP00000352608.2:p.Asp2629_Val2630insAsp
ENST00000360985.7:c.7883_7885dup ENSP00000354254.4:p.Asp2628_Val2629insAsp
ENST00000594335.5:c.1338_1340dup
NM_000540.2:c.7886_7888dup , LRG_766t1:c.7886_7888dup NP_000531.2:p.Asp2629_Val2630insAsp
NM_001042723.1:c.7886_7888dup NP_001036188.1:p.Asp2629_Val2630insAsp
XM_006723317.1:c.7886_7888dup XP_006723380.1:p.Asp2629_Val2630insAsp
XM_006723319.1:c.7886_7888dup XP_006723382.1:p.Asp2629_Val2630insAsp
XM_011527204.1:c.7883_7885dup XP_011525506.1:p.Asp2628_Val2629insAsp
XM_011527205.1:c.7886_7888dup XP_011525507.1:p.Asp2629_Val2630insAsp
XM_006723317.2:c.7886_7888dup XP_006723380.1:p.Asp2629_Val2630insAsp
XM_006723319.2:c.7886_7888dup XP_006723382.1:p.Asp2629_Val2630insAsp
XM_011527205.2:c.7886_7888dup XP_011525507.1:p.Asp2629_Val2630insAsp
XR_001753735.1:n.7969_7971dup
NM_000540.3:c.7886_7888dup MANE Select NP_000531.2:p.Asp2629_Val2630insAsp
NM_001042723.2:c.7886_7888dup NP_001036188.1:p.Asp2629_Val2630insAsp
Search 100 bp 5'
Search 100 bp 3'