Canonical Allele Identifier: CA2335096114

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587349_38587351delinsCAA , CM000681.2:g.38587349_38587351delinsCAA	GRCh38
NC_000019.9:g.39077989_39077991delinsCAA , CM000681.1:g.39077989_39077991delinsCAA	GRCh37
NC_000019.8:g.43769829_43769831delinsCAA	NCBI36
NG_008866.1:g.158650_158652delinsCAA , LRG_766:g.158650_158652delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+773_1957+775delinsCAA
ENST00000688602.1:c.3379_3381delinsCAA
ENST00000689936.1:c.3351_3353delinsCAA
ENST00000692547.1:n.439_441delinsCAA
ENST00000359596.8:c.15046_15048delinsCAA MANE Select	ENSP00000352608.2:p.Gln5016=
ENST00000355481.8:c.15031_15033delinsCAA	ENSP00000347667.3:p.Gln5011=
ENST00000359596.7:c.15046_15048delinsCAA	ENSP00000352608.2:p.Gln5016=
ENST00000360985.7:c.15028_15030delinsCAA	ENSP00000354254.4:p.Gln5010=
NM_000540.2:c.15046_15048delinsCAA , LRG_766t1:c.15046_15048delinsCAA	NP_000531.2:p.Gln5016=
NM_001042723.1:c.15031_15033delinsCAA	NP_001036188.1:p.Gln5011=
XM_006723317.1:c.15028_15030delinsCAA	XP_006723380.1:p.Gln5010=
XM_006723319.1:c.15013_15015delinsCAA	XP_006723382.1:p.Gln5005=
XM_011527204.1:c.15043_15045delinsCAA	XP_011525506.1:p.Gln5015=
XM_011527205.1:c.14959_14961delinsCAA	XP_011525507.1:p.Gln4987=
XM_006723317.2:c.15028_15030delinsCAA	XP_006723380.1:p.Gln5010=
XM_006723319.2:c.15013_15015delinsCAA	XP_006723382.1:p.Gln5005=
XM_011527205.2:c.14959_14961delinsCAA	XP_011525507.1:p.Gln4987=
NM_000540.3:c.15046_15048delinsCAA MANE Select	NP_000531.2:p.Gln5016=
NM_001042723.2:c.15031_15033delinsCAA	NP_001036188.1:p.Gln5011=