Canonical Allele Identifier: CA2335092454

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580395_38580398delinsCGGT , CM000681.2:g.38580395_38580398delinsCGGT	GRCh38
NC_000019.9:g.39071035_39071038delinsCGGT , CM000681.1:g.39071035_39071038delinsCGGT	GRCh37
NC_000019.8:g.43762875_43762878delinsCGGT	NCBI36
NG_008866.1:g.151696_151699delinsCGGT , LRG_766:g.151696_151699delinsCGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1473_1476delinsCGGT
ENST00000688602.1:c.2870_2873delinsCGGT
ENST00000689936.1:c.2842_2845delinsCGGT
ENST00000359596.8:c.14537_14540delinsCGGT MANE Select	ENSP00000352608.2:p.Ala4846=
ENST00000355481.8:c.14522_14525delinsCGGT	ENSP00000347667.3:p.Ala4841=
ENST00000359596.7:c.14537_14540delinsCGGT	ENSP00000352608.2:p.Ala4846=
ENST00000360985.7:c.14519_14522delinsCGGT	ENSP00000354254.4:p.Ala4840=
NM_000540.2:c.14537_14540delinsCGGT , LRG_766t1:c.14537_14540delinsCGGT	NP_000531.2:p.Ala4846=
NM_001042723.1:c.14522_14525delinsCGGT	NP_001036188.1:p.Ala4841=
XM_006723317.1:c.14519_14522delinsCGGT	XP_006723380.1:p.Ala4840=
XM_006723319.1:c.14504_14507delinsCGGT	XP_006723382.1:p.Ala4835=
XM_011527204.1:c.14534_14537delinsCGGT	XP_011525506.1:p.Ala4845=
XM_011527205.1:c.14450_14453delinsCGGT	XP_011525507.1:p.Ala4817=
XM_006723317.2:c.14519_14522delinsCGGT	XP_006723380.1:p.Ala4840=
XM_006723319.2:c.14504_14507delinsCGGT	XP_006723382.1:p.Ala4835=
XM_011527205.2:c.14450_14453delinsCGGT	XP_011525507.1:p.Ala4817=
NM_000540.3:c.14537_14540delinsCGGT MANE Select	NP_000531.2:p.Ala4846=
NM_001042723.2:c.14522_14525delinsCGGT	NP_001036188.1:p.Ala4841=