Canonical Allele Identifier: CA2576770235
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38457631del , CM000681.2:g.38457631del GRCh38
NC_000019.9:g.38948271del , CM000681.1:g.38948271del GRCh37
NC_000019.8:g.43640111del NCBI36
NG_008866.1:g.28932del , LRG_766:g.28932del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1925+1del
ENST00000359596.8:c.1925+1del
ENST00000355481.8:c.1925+1del
ENST00000359596.7:c.1925+1del
ENST00000360985.7:c.1925+1del
NM_000540.2:c.1925+1del , LRG_766t1:c.1925+1del
NM_001042723.1:c.1925+1del
XM_006723317.1:c.1925+1del
XM_006723319.1:c.1925+1del
XM_011527204.1:c.1922+1del
XM_011527205.1:c.1925+1del
XM_006723317.2:c.1925+1del
XM_006723319.2:c.1925+1del
XM_011527205.2:c.1925+1del
XR_001753735.1:n.2008+1del
NM_000540.3:c.1925+1del
NM_001042723.2:c.1925+1del