Canonical Allele Identifier: CA2814346197

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565380_38565382del , CM000681.2:g.38565380_38565382del	GRCh38
NC_000019.9:g.39056020_39056022del , CM000681.1:g.39056020_39056022del	GRCh37
NC_000019.8:g.43747860_43747862del	NCBI36
NG_008866.1:g.136681_136683del , LRG_766:g.136681_136683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1456_1458del
ENST00000689936.1:c.1438_1440del
ENST00000359596.8:c.13046_13048del MANE Select	ENSP00000352608.2:p.Gly4349del
ENST00000355481.8:c.13031_13033del	ENSP00000347667.3:p.Gly4344del
ENST00000359596.7:c.13046_13048del	ENSP00000352608.2:p.Gly4349del
ENST00000360985.7:c.13028_13030del	ENSP00000354254.4:p.Gly4343del
NM_000540.2:c.13046_13048del , LRG_766t1:c.13046_13048del	NP_000531.2:p.Gly4349del
NM_001042723.1:c.13031_13033del	NP_001036188.1:p.Gly4344del
XM_006723317.1:c.13028_13030del	XP_006723380.1:p.Gly4343del
XM_006723319.1:c.13013_13015del	XP_006723382.1:p.Gly4338del
XM_011527204.1:c.13043_13045del	XP_011525506.1:p.Gly4348del
XM_011527205.1:c.13046_13048del	XP_011525507.1:p.Gly4349del
XM_006723317.2:c.13028_13030del	XP_006723380.1:p.Gly4343del
XM_006723319.2:c.13013_13015del	XP_006723382.1:p.Gly4338del
XM_011527205.2:c.13046_13048del	XP_011525507.1:p.Gly4349del
NM_000540.3:c.13046_13048del MANE Select	NP_000531.2:p.Gly4349del
NM_001042723.2:c.13031_13033del	NP_001036188.1:p.Gly4344del