Canonical Allele Identifier: CA2335052730

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499431_38499435delinsATCCT , CM000681.2:g.38499431_38499435delinsATCCT	GRCh38
NC_000019.9:g.38990071_38990075delinsATCCT , CM000681.1:g.38990071_38990075delinsATCCT	GRCh37
NC_000019.8:g.43681911_43681915delinsATCCT	NCBI36
NG_008866.1:g.70732_70736delinsATCCT , LRG_766:g.70732_70736delinsATCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7027+188_7027+192delinsATCCT	ENSP00000471601.2:n.7027+188_7027+192delinsATCCT
ENST00000359596.8:c.7027+188_7027+192delinsATCCT MANE Select	ENSP00000352608.2:n.7027+188_7027+192delinsATCCT
ENST00000355481.8:c.7027+188_7027+192delinsATCCT	ENSP00000347667.3:n.7027+188_7027+192delinsATCCT
ENST00000359596.7:c.7027+188_7027+192delinsATCCT	ENSP00000352608.2:n.7027+188_7027+192delinsATCCT
ENST00000360985.7:c.7024+188_7024+192delinsATCCT	ENSP00000354254.4:n.7024+188_7024+192delinsATCCT
ENST00000594335.5:c.479+188_479+192delinsATCCT
NM_000540.2:c.7027+188_7027+192delinsATCCT , LRG_766t1:c.7027+188_7027+192delinsATCCT	NP_000531.2:n.7027+188_7027+192delinsATCCT
NM_001042723.1:c.7027+188_7027+192delinsATCCT	NP_001036188.1:n.7027+188_7027+192delinsATCCT
XM_006723317.1:c.7027+188_7027+192delinsATCCT	XP_006723380.1:n.7027+188_7027+192delinsATCCT
XM_006723319.1:c.7027+188_7027+192delinsATCCT	XP_006723382.1:n.7027+188_7027+192delinsATCCT
XM_011527204.1:c.7024+188_7024+192delinsATCCT	XP_011525506.1:n.7024+188_7024+192delinsATCCT
XM_011527205.1:c.7027+188_7027+192delinsATCCT	XP_011525507.1:n.7027+188_7027+192delinsATCCT
XM_006723317.2:c.7027+188_7027+192delinsATCCT	XP_006723380.1:n.7027+188_7027+192delinsATCCT
XM_006723319.2:c.7027+188_7027+192delinsATCCT	XP_006723382.1:n.7027+188_7027+192delinsATCCT
XM_011527205.2:c.7027+188_7027+192delinsATCCT	XP_011525507.1:n.7027+188_7027+192delinsATCCT
XR_001753735.1:n.7110+188_7110+192delinsATCCT
NM_000540.3:c.7027+188_7027+192delinsATCCT MANE Select	NP_000531.2:n.7027+188_7027+192delinsATCCT
NM_001042723.2:c.7027+188_7027+192delinsATCCT	NP_001036188.1:n.7027+188_7027+192delinsATCCT