Canonical Allele Identifier: CA2814333045

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38446566_38446693del , CM000681.2:g.38446566_38446693del	GRCh38
NC_000019.9:g.38937206_38937333del , CM000681.1:g.38937206_38937333del	GRCh37
NC_000019.8:g.43629046_43629173del	NCBI36
NG_008866.1:g.17867_17994del , LRG_766:g.17867_17994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.725+1_726-1del
ENST00000359596.8:c.725+1_726-1del
ENST00000355481.8:c.725+1_726-1del
ENST00000359596.7:c.725+1_726-1del
ENST00000360985.7:c.725+1_726-1del
NM_000540.2:c.725+1_726-1del , LRG_766t1:c.725+1_726-1del
NM_001042723.1:c.725+1_726-1del
XM_006723317.1:c.725+1_726-1del
XM_006723319.1:c.725+1_726-1del
XM_011527204.1:c.725+1_726-1del
XM_011527205.1:c.725+1_726-1del
XM_006723317.2:c.725+1_726-1del
XM_006723319.2:c.725+1_726-1del
XM_011527205.2:c.725+1_726-1del
XR_001753735.1:n.808+1_809-1del
NM_000540.3:c.725+1_726-1del
NM_001042723.2:c.725+1_726-1del