Canonical Allele Identifier: CA913015952
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499907_38499908del , CM000681.2:g.38499907_38499908del GRCh38
NC_000019.9:g.38990547_38990548del , CM000681.1:g.38990547_38990548del GRCh37
NC_000019.8:g.43682387_43682388del NCBI36
NG_008866.1:g.71208_71209del , LRG_766:g.71208_71209del

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.7215-1_7215del
ENST00000359596.8:c.7215-1_7215del
ENST00000355481.8:c.7215-1_7215del
ENST00000359596.7:c.7215-1_7215del
ENST00000360985.7:c.7212-1_7212del
ENST00000594335.5:c.667-1_667del
NM_000540.2:c.7215-1_7215del , LRG_766t1:c.7215-1_7215del
NM_001042723.1:c.7215-1_7215del
XM_006723317.1:c.7215-1_7215del
XM_006723319.1:c.7215-1_7215del
XM_011527204.1:c.7212-1_7212del
XM_011527205.1:c.7215-1_7215del
XM_006723317.2:c.7215-1_7215del
XM_006723319.2:c.7215-1_7215del
XM_011527205.2:c.7215-1_7215del
XR_001753735.1:n.7298-1_7298del
NM_000540.3:c.7215-1_7215del
NM_001042723.2:c.7215-1_7215del