Canonical Allele Identifier: CA2335052991
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499881_38499882delinsTC , CM000681.2:g.38499881_38499882delinsTC GRCh38
NC_000019.9:g.38990521_38990522delinsTC , CM000681.1:g.38990521_38990522delinsTC GRCh37
NC_000019.8:g.43682361_43682362delinsTC NCBI36
NG_008866.1:g.71182_71183delinsTC , LRG_766:g.71182_71183delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7215-27_7215-26delinsTC ENSP00000471601.2:n.7215-27_7215-26delinsTC
ENST00000359596.8:c.7215-27_7215-26delinsTC MANE Select ENSP00000352608.2:n.7215-27_7215-26delinsTC
ENST00000355481.8:c.7215-27_7215-26delinsTC ENSP00000347667.3:n.7215-27_7215-26delinsTC
ENST00000359596.7:c.7215-27_7215-26delinsTC ENSP00000352608.2:n.7215-27_7215-26delinsTC
ENST00000360985.7:c.7212-27_7212-26delinsTC ENSP00000354254.4:n.7212-27_7212-26delinsTC
ENST00000594335.5:c.667-27_667-26delinsTC
NM_000540.2:c.7215-27_7215-26delinsTC , LRG_766t1:c.7215-27_7215-26delinsTC NP_000531.2:n.7215-27_7215-26delinsTC
NM_001042723.1:c.7215-27_7215-26delinsTC NP_001036188.1:n.7215-27_7215-26delinsTC
XM_006723317.1:c.7215-27_7215-26delinsTC XP_006723380.1:n.7215-27_7215-26delinsTC
XM_006723319.1:c.7215-27_7215-26delinsTC XP_006723382.1:n.7215-27_7215-26delinsTC
XM_011527204.1:c.7212-27_7212-26delinsTC XP_011525506.1:n.7212-27_7212-26delinsTC
XM_011527205.1:c.7215-27_7215-26delinsTC XP_011525507.1:n.7215-27_7215-26delinsTC
XM_006723317.2:c.7215-27_7215-26delinsTC XP_006723380.1:n.7215-27_7215-26delinsTC
XM_006723319.2:c.7215-27_7215-26delinsTC XP_006723382.1:n.7215-27_7215-26delinsTC
XM_011527205.2:c.7215-27_7215-26delinsTC XP_011525507.1:n.7215-27_7215-26delinsTC
XR_001753735.1:n.7298-27_7298-26delinsTC
NM_000540.3:c.7215-27_7215-26delinsTC MANE Select NP_000531.2:n.7215-27_7215-26delinsTC
NM_001042723.2:c.7215-27_7215-26delinsTC NP_001036188.1:n.7215-27_7215-26delinsTC
Search 100 bp 5'
Search 100 bp 3'