Canonical Allele Identifier: CA2335094910

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584924_38584925delinsGT , CM000681.2:g.38584924_38584925delinsGT	GRCh38
NC_000019.9:g.39075564_39075565delinsGT , CM000681.1:g.39075564_39075565delinsGT	GRCh37
NC_000019.8:g.43767404_43767405delinsGT	NCBI36
NG_008866.1:g.156225_156226delinsGT , LRG_766:g.156225_156226delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-19_1583-18delinsGT
ENST00000688602.1:c.2980-19_2980-18delinsGT
ENST00000689936.1:c.2952-19_2952-18delinsGT
ENST00000692547.1:n.21_22delinsGT
ENST00000359596.8:c.14647-19_14647-18delinsGT MANE Select	ENSP00000352608.2:n.14647-19_14647-18delinsGT
ENST00000355481.8:c.14632-19_14632-18delinsGT	ENSP00000347667.3:n.14632-19_14632-18delinsGT
ENST00000359596.7:c.14647-19_14647-18delinsGT	ENSP00000352608.2:n.14647-19_14647-18delinsGT
ENST00000360985.7:c.14629-19_14629-18delinsGT	ENSP00000354254.4:n.14629-19_14629-18delinsGT
NM_000540.2:c.14647-19_14647-18delinsGT , LRG_766t1:c.14647-19_14647-18delinsGT	NP_000531.2:n.14647-19_14647-18delinsGT
NM_001042723.1:c.14632-19_14632-18delinsGT	NP_001036188.1:n.14632-19_14632-18delinsGT
XM_006723317.1:c.14629-19_14629-18delinsGT	XP_006723380.1:n.14629-19_14629-18delinsGT
XM_006723319.1:c.14614-19_14614-18delinsGT	XP_006723382.1:n.14614-19_14614-18delinsGT
XM_011527204.1:c.14644-19_14644-18delinsGT	XP_011525506.1:n.14644-19_14644-18delinsGT
XM_011527205.1:c.14560-19_14560-18delinsGT	XP_011525507.1:n.14560-19_14560-18delinsGT
XM_006723317.2:c.14629-19_14629-18delinsGT	XP_006723380.1:n.14629-19_14629-18delinsGT
XM_006723319.2:c.14614-19_14614-18delinsGT	XP_006723382.1:n.14614-19_14614-18delinsGT
XM_011527205.2:c.14560-19_14560-18delinsGT	XP_011525507.1:n.14560-19_14560-18delinsGT
NM_000540.3:c.14647-19_14647-18delinsGT MANE Select	NP_000531.2:n.14647-19_14647-18delinsGT
NM_001042723.2:c.14632-19_14632-18delinsGT	NP_001036188.1:n.14632-19_14632-18delinsGT