Canonical Allele Identifier: CA2335024325

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38440740_38440746delinsCGCAGGA , CM000681.2:g.38440740_38440746delinsCGCAGGA	GRCh38
NC_000019.9:g.38931380_38931386delinsCGCAGGA , CM000681.1:g.38931380_38931386delinsCGCAGGA	GRCh37
NC_000019.8:g.43623220_43623226delinsCGCAGGA	NCBI36
NG_008866.1:g.12041_12047delinsCGCAGGA , LRG_766:g.12041_12047delinsCGCAGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.46-5_47delinsCGCAGGA
ENST00000359596.8:c.46-5_47delinsCGCAGGA
ENST00000355481.8:c.46-5_47delinsCGCAGGA
ENST00000359596.7:c.46-5_47delinsCGCAGGA
ENST00000360985.7:c.46-5_47delinsCGCAGGA
NM_000540.2:c.46-5_47delinsCGCAGGA , LRG_766t1:c.46-5_47delinsCGCAGGA
NM_001042723.1:c.46-5_47delinsCGCAGGA
XM_006723317.1:c.46-5_47delinsCGCAGGA
XM_006723319.1:c.46-5_47delinsCGCAGGA
XM_011527204.1:c.46-5_47delinsCGCAGGA
XM_011527205.1:c.46-5_47delinsCGCAGGA
XM_006723317.2:c.46-5_47delinsCGCAGGA
XM_006723319.2:c.46-5_47delinsCGCAGGA
XM_011527205.2:c.46-5_47delinsCGCAGGA
XR_001753735.1:n.129-5_130delinsCGCAGGA
NM_000540.3:c.46-5_47delinsCGCAGGA
NM_001042723.2:c.46-5_47delinsCGCAGGA