Canonical Allele Identifier: CA2335084842

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565377_38565378delinsCG , CM000681.2:g.38565377_38565378delinsCG	GRCh38
NC_000019.9:g.39056017_39056018delinsCG , CM000681.1:g.39056017_39056018delinsCG	GRCh37
NC_000019.8:g.43747857_43747858delinsCG	NCBI36
NG_008866.1:g.136678_136679delinsCG , LRG_766:g.136678_136679delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1453_1454delinsCG
ENST00000689936.1:c.1435_1436delinsCG
ENST00000359596.8:c.13043_13044delinsCG MANE Select	ENSP00000352608.2:p.Ala4348=
ENST00000355481.8:c.13028_13029delinsCG	ENSP00000347667.3:p.Ala4343=
ENST00000359596.7:c.13043_13044delinsCG	ENSP00000352608.2:p.Ala4348=
ENST00000360985.7:c.13025_13026delinsCG	ENSP00000354254.4:p.Ala4342=
NM_000540.2:c.13043_13044delinsCG , LRG_766t1:c.13043_13044delinsCG	NP_000531.2:p.Ala4348=
NM_001042723.1:c.13028_13029delinsCG	NP_001036188.1:p.Ala4343=
XM_006723317.1:c.13025_13026delinsCG	XP_006723380.1:p.Ala4342=
XM_006723319.1:c.13010_13011delinsCG	XP_006723382.1:p.Ala4337=
XM_011527204.1:c.13040_13041delinsCG	XP_011525506.1:p.Ala4347=
XM_011527205.1:c.13043_13044delinsCG	XP_011525507.1:p.Ala4348=
XM_006723317.2:c.13025_13026delinsCG	XP_006723380.1:p.Ala4342=
XM_006723319.2:c.13010_13011delinsCG	XP_006723382.1:p.Ala4337=
XM_011527205.2:c.13043_13044delinsCG	XP_011525507.1:p.Ala4348=
NM_000540.3:c.13043_13044delinsCG MANE Select	NP_000531.2:p.Ala4348=
NM_001042723.2:c.13028_13029delinsCG	NP_001036188.1:p.Ala4343=