Canonical Allele Identifier: CA2335084950

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565551_38565552delinsAG , CM000681.2:g.38565551_38565552delinsAG	GRCh38
NC_000019.9:g.39056191_39056192delinsAG , CM000681.1:g.39056191_39056192delinsAG	GRCh37
NC_000019.8:g.43748031_43748032delinsAG	NCBI36
NG_008866.1:g.136852_136853delinsAG , LRG_766:g.136852_136853delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.153_154delinsAG
ENST00000688602.1:c.1627_1628delinsAG
ENST00000689936.1:c.1609_1610delinsAG
ENST00000359596.8:c.13217_13218delinsAG MANE Select	ENSP00000352608.2:p.Glu4406=
ENST00000355481.8:c.13202_13203delinsAG	ENSP00000347667.3:p.Glu4401=
ENST00000359596.7:c.13217_13218delinsAG	ENSP00000352608.2:p.Glu4406=
ENST00000360985.7:c.13199_13200delinsAG	ENSP00000354254.4:p.Glu4400=
NM_000540.2:c.13217_13218delinsAG , LRG_766t1:c.13217_13218delinsAG	NP_000531.2:p.Glu4406=
NM_001042723.1:c.13202_13203delinsAG	NP_001036188.1:p.Glu4401=
XM_006723317.1:c.13199_13200delinsAG	XP_006723380.1:p.Glu4400=
XM_006723319.1:c.13184_13185delinsAG	XP_006723382.1:p.Glu4395=
XM_011527204.1:c.13214_13215delinsAG	XP_011525506.1:p.Glu4405=
XM_011527205.1:c.13217_13218delinsAG	XP_011525507.1:p.Glu4406=
XM_006723317.2:c.13199_13200delinsAG	XP_006723380.1:p.Glu4400=
XM_006723319.2:c.13184_13185delinsAG	XP_006723382.1:p.Glu4395=
XM_011527205.2:c.13217_13218delinsAG	XP_011525507.1:p.Glu4406=
NM_000540.3:c.13217_13218delinsAG MANE Select	NP_000531.2:p.Glu4406=
NM_001042723.2:c.13202_13203delinsAG	NP_001036188.1:p.Glu4401=