Canonical Allele Identifier: CA2335092312

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580126_38580127delinsCA , CM000681.2:g.38580126_38580127delinsCA	GRCh38
NC_000019.9:g.39070766_39070767delinsCA , CM000681.1:g.39070766_39070767delinsCA	GRCh37
NC_000019.8:g.43762606_43762607delinsCA	NCBI36
NG_008866.1:g.151427_151428delinsCA , LRG_766:g.151427_151428delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1445_1446delinsCA
ENST00000688602.1:c.2842_2843delinsCA
ENST00000689936.1:c.2814_2815delinsCA
ENST00000359596.8:c.14509_14510delinsCA MANE Select	ENSP00000352608.2:p.Gln4837=
ENST00000355481.8:c.14494_14495delinsCA	ENSP00000347667.3:p.Gln4832=
ENST00000359596.7:c.14509_14510delinsCA	ENSP00000352608.2:p.Gln4837=
ENST00000360985.7:c.14491_14492delinsCA	ENSP00000354254.4:p.Gln4831=
NM_000540.2:c.14509_14510delinsCA , LRG_766t1:c.14509_14510delinsCA	NP_000531.2:p.Gln4837=
NM_001042723.1:c.14494_14495delinsCA	NP_001036188.1:p.Gln4832=
XM_006723317.1:c.14491_14492delinsCA	XP_006723380.1:p.Gln4831=
XM_006723319.1:c.14476_14477delinsCA	XP_006723382.1:p.Gln4826=
XM_011527204.1:c.14506_14507delinsCA	XP_011525506.1:p.Gln4836=
XM_011527205.1:c.14422_14423delinsCA	XP_011525507.1:p.Gln4808=
XM_006723317.2:c.14491_14492delinsCA	XP_006723380.1:p.Gln4831=
XM_006723319.2:c.14476_14477delinsCA	XP_006723382.1:p.Gln4826=
XM_011527205.2:c.14422_14423delinsCA	XP_011525507.1:p.Gln4808=
NM_000540.3:c.14509_14510delinsCA MANE Select	NP_000531.2:p.Gln4837=
NM_001042723.2:c.14494_14495delinsCA	NP_001036188.1:p.Gln4832=