Canonical Allele Identifier: CA2335084882

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565447_38565450delinsCAAG , CM000681.2:g.38565447_38565450delinsCAAG	GRCh38
NC_000019.9:g.39056087_39056090delinsCAAG , CM000681.1:g.39056087_39056090delinsCAAG	GRCh37
NC_000019.8:g.43747927_43747930delinsCAAG	NCBI36
NG_008866.1:g.136748_136751delinsCAAG , LRG_766:g.136748_136751delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.49_52delinsCAAG
ENST00000688602.1:c.1523_1526delinsCAAG
ENST00000689936.1:c.1505_1508delinsCAAG
ENST00000359596.8:c.13113_13116delinsCAAG MANE Select	ENSP00000352608.2:p.Ala4371=
ENST00000355481.8:c.13098_13101delinsCAAG	ENSP00000347667.3:p.Ala4366=
ENST00000359596.7:c.13113_13116delinsCAAG	ENSP00000352608.2:p.Ala4371=
ENST00000360985.7:c.13095_13098delinsCAAG	ENSP00000354254.4:p.Ala4365=
NM_000540.2:c.13113_13116delinsCAAG , LRG_766t1:c.13113_13116delinsCAAG	NP_000531.2:p.Ala4371=
NM_001042723.1:c.13098_13101delinsCAAG	NP_001036188.1:p.Ala4366=
XM_006723317.1:c.13095_13098delinsCAAG	XP_006723380.1:p.Ala4365=
XM_006723319.1:c.13080_13083delinsCAAG	XP_006723382.1:p.Ala4360=
XM_011527204.1:c.13110_13113delinsCAAG	XP_011525506.1:p.Ala4370=
XM_011527205.1:c.13113_13116delinsCAAG	XP_011525507.1:p.Ala4371=
XM_006723317.2:c.13095_13098delinsCAAG	XP_006723380.1:p.Ala4365=
XM_006723319.2:c.13080_13083delinsCAAG	XP_006723382.1:p.Ala4360=
XM_011527205.2:c.13113_13116delinsCAAG	XP_011525507.1:p.Ala4371=
NM_000540.3:c.13113_13116delinsCAAG MANE Select	NP_000531.2:p.Ala4371=
NM_001042723.2:c.13098_13101delinsCAAG	NP_001036188.1:p.Ala4366=