Canonical Allele Identifier: CA2584899834
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38499165-G-GGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499166_38499168dup , CM000681.2:g.38499166_38499168dup GRCh38
NC_000019.9:g.38989806_38989808dup , CM000681.1:g.38989806_38989808dup GRCh37
NC_000019.8:g.43681646_43681648dup NCBI36
NG_008866.1:g.70467_70469dup , LRG_766:g.70467_70469dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.6950_6952dup ENSP00000471601.2:p.Gly2317_Tyr2318insTrp
ENST00000359596.8:c.6950_6952dup MANE Select ENSP00000352608.2:p.Gly2317_Tyr2318insTrp
ENST00000355481.8:c.6950_6952dup ENSP00000347667.3:p.Gly2317_Tyr2318insTrp
ENST00000359596.7:c.6950_6952dup ENSP00000352608.2:p.Gly2317_Tyr2318insTrp
ENST00000360985.7:c.6947_6949dup ENSP00000354254.4:p.Gly2316_Tyr2317insTrp
ENST00000594335.5:c.402_404dup
NM_000540.2:c.6950_6952dup , LRG_766t1:c.6950_6952dup NP_000531.2:p.Gly2317_Tyr2318insTrp
NM_001042723.1:c.6950_6952dup NP_001036188.1:p.Gly2317_Tyr2318insTrp
XM_006723317.1:c.6950_6952dup XP_006723380.1:p.Gly2317_Tyr2318insTrp
XM_006723319.1:c.6950_6952dup XP_006723382.1:p.Gly2317_Tyr2318insTrp
XM_011527204.1:c.6947_6949dup XP_011525506.1:p.Gly2316_Tyr2317insTrp
XM_011527205.1:c.6950_6952dup XP_011525507.1:p.Gly2317_Tyr2318insTrp
XM_006723317.2:c.6950_6952dup XP_006723380.1:p.Gly2317_Tyr2318insTrp
XM_006723319.2:c.6950_6952dup XP_006723382.1:p.Gly2317_Tyr2318insTrp
XM_011527205.2:c.6950_6952dup XP_011525507.1:p.Gly2317_Tyr2318insTrp
XR_001753735.1:n.7033_7035dup
NM_000540.3:c.6950_6952dup MANE Select NP_000531.2:p.Gly2317_Tyr2318insTrp
NM_001042723.2:c.6950_6952dup NP_001036188.1:p.Gly2317_Tyr2318insTrp
Search 100 bp 5'
Search 100 bp 3'