Canonical Allele Identifier: CA2576771132
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502810-G-GAGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502812_38502813insCAG , CM000681.2:g.38502812_38502813insCAG GRCh38
NC_000019.9:g.38993452_38993453insCAG , CM000681.1:g.38993452_38993453insCAG GRCh37
NC_000019.8:g.43685292_43685293insCAG NCBI36
NG_008866.1:g.74113_74114insCAG , LRG_766:g.74113_74114insCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-68_7836-67insCAG ENSP00000471601.2:n.7836-68_7836-67insCAG
ENST00000359596.8:c.7836-68_7836-67insCAG MANE Select ENSP00000352608.2:n.7836-68_7836-67insCAG
ENST00000355481.8:c.7836-68_7836-67insCAG ENSP00000347667.3:n.7836-68_7836-67insCAG
ENST00000359596.7:c.7836-68_7836-67insCAG ENSP00000352608.2:n.7836-68_7836-67insCAG
ENST00000360985.7:c.7833-68_7833-67insCAG ENSP00000354254.4:n.7833-68_7833-67insCAG
ENST00000594335.5:c.1288-68_1288-67insCAG
NM_000540.2:c.7836-68_7836-67insCAG , LRG_766t1:c.7836-68_7836-67insCAG NP_000531.2:n.7836-68_7836-67insCAG
NM_001042723.1:c.7836-68_7836-67insCAG NP_001036188.1:n.7836-68_7836-67insCAG
XM_006723317.1:c.7836-68_7836-67insCAG XP_006723380.1:n.7836-68_7836-67insCAG
XM_006723319.1:c.7836-68_7836-67insCAG XP_006723382.1:n.7836-68_7836-67insCAG
XM_011527204.1:c.7833-68_7833-67insCAG XP_011525506.1:n.7833-68_7833-67insCAG
XM_011527205.1:c.7836-68_7836-67insCAG XP_011525507.1:n.7836-68_7836-67insCAG
XM_006723317.2:c.7836-68_7836-67insCAG XP_006723380.1:n.7836-68_7836-67insCAG
XM_006723319.2:c.7836-68_7836-67insCAG XP_006723382.1:n.7836-68_7836-67insCAG
XM_011527205.2:c.7836-68_7836-67insCAG XP_011525507.1:n.7836-68_7836-67insCAG
XR_001753735.1:n.7919-68_7919-67insCAG
NM_000540.3:c.7836-68_7836-67insCAG MANE Select NP_000531.2:n.7836-68_7836-67insCAG
NM_001042723.2:c.7836-68_7836-67insCAG NP_001036188.1:n.7836-68_7836-67insCAG
Search 100 bp 5'
Search 100 bp 3'