Canonical Allele Identifier: CA2335094710

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584615_38584620delinsCCCCAT , CM000681.2:g.38584615_38584620delinsCCCCAT	GRCh38
NC_000019.9:g.39075255_39075260delinsCCCCAT , CM000681.1:g.39075255_39075260delinsCCCCAT	GRCh37
NC_000019.8:g.43767095_43767100delinsCCCCAT	NCBI36
NG_008866.1:g.155916_155921delinsCCCCAT , LRG_766:g.155916_155921delinsCCCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-328_1583-323delinsCCCCAT
ENST00000688602.1:c.2980-328_2980-323delinsCCCCAT
ENST00000689936.1:c.2952-328_2952-323delinsCCCCAT
ENST00000359596.8:c.14647-328_14647-323delinsCCCCAT MANE Select	ENSP00000352608.2:n.14647-328_14647-323delinsCCCCAT
ENST00000355481.8:c.14632-328_14632-323delinsCCCCAT	ENSP00000347667.3:n.14632-328_14632-323delinsCCCCAT
ENST00000359596.7:c.14647-328_14647-323delinsCCCCAT	ENSP00000352608.2:n.14647-328_14647-323delinsCCCCAT
ENST00000360985.7:c.14629-328_14629-323delinsCCCCAT	ENSP00000354254.4:n.14629-328_14629-323delinsCCCCAT
NM_000540.2:c.14647-328_14647-323delinsCCCCAT , LRG_766t1:c.14647-328_14647-323delinsCCCCAT	NP_000531.2:n.14647-328_14647-323delinsCCCCAT
NM_001042723.1:c.14632-328_14632-323delinsCCCCAT	NP_001036188.1:n.14632-328_14632-323delinsCCCCAT
XM_006723317.1:c.14629-328_14629-323delinsCCCCAT	XP_006723380.1:n.14629-328_14629-323delinsCCCCAT
XM_006723319.1:c.14614-328_14614-323delinsCCCCAT	XP_006723382.1:n.14614-328_14614-323delinsCCCCAT
XM_011527204.1:c.14644-328_14644-323delinsCCCCAT	XP_011525506.1:n.14644-328_14644-323delinsCCCCAT
XM_011527205.1:c.14560-328_14560-323delinsCCCCAT	XP_011525507.1:n.14560-328_14560-323delinsCCCCAT
XM_006723317.2:c.14629-328_14629-323delinsCCCCAT	XP_006723380.1:n.14629-328_14629-323delinsCCCCAT
XM_006723319.2:c.14614-328_14614-323delinsCCCCAT	XP_006723382.1:n.14614-328_14614-323delinsCCCCAT
XM_011527205.2:c.14560-328_14560-323delinsCCCCAT	XP_011525507.1:n.14560-328_14560-323delinsCCCCAT
NM_000540.3:c.14647-328_14647-323delinsCCCCAT MANE Select	NP_000531.2:n.14647-328_14647-323delinsCCCCAT
NM_001042723.2:c.14632-328_14632-323delinsCCCCAT	NP_001036188.1:n.14632-328_14632-323delinsCCCCAT