Canonical Allele Identifier: CA2335094755

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584658_38584659delinsTG , CM000681.2:g.38584658_38584659delinsTG	GRCh38
NC_000019.9:g.39075298_39075299delinsTG , CM000681.1:g.39075298_39075299delinsTG	GRCh37
NC_000019.8:g.43767138_43767139delinsTG	NCBI36
NG_008866.1:g.155959_155960delinsTG , LRG_766:g.155959_155960delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-285_1583-284delinsTG
ENST00000688602.1:c.2980-285_2980-284delinsTG
ENST00000689936.1:c.2952-285_2952-284delinsTG
ENST00000359596.8:c.14647-285_14647-284delinsTG MANE Select	ENSP00000352608.2:n.14647-285_14647-284delinsTG
ENST00000355481.8:c.14632-285_14632-284delinsTG	ENSP00000347667.3:n.14632-285_14632-284delinsTG
ENST00000359596.7:c.14647-285_14647-284delinsTG	ENSP00000352608.2:n.14647-285_14647-284delinsTG
ENST00000360985.7:c.14629-285_14629-284delinsTG	ENSP00000354254.4:n.14629-285_14629-284delinsTG
NM_000540.2:c.14647-285_14647-284delinsTG , LRG_766t1:c.14647-285_14647-284delinsTG	NP_000531.2:n.14647-285_14647-284delinsTG
NM_001042723.1:c.14632-285_14632-284delinsTG	NP_001036188.1:n.14632-285_14632-284delinsTG
XM_006723317.1:c.14629-285_14629-284delinsTG	XP_006723380.1:n.14629-285_14629-284delinsTG
XM_006723319.1:c.14614-285_14614-284delinsTG	XP_006723382.1:n.14614-285_14614-284delinsTG
XM_011527204.1:c.14644-285_14644-284delinsTG	XP_011525506.1:n.14644-285_14644-284delinsTG
XM_011527205.1:c.14560-285_14560-284delinsTG	XP_011525507.1:n.14560-285_14560-284delinsTG
XM_006723317.2:c.14629-285_14629-284delinsTG	XP_006723380.1:n.14629-285_14629-284delinsTG
XM_006723319.2:c.14614-285_14614-284delinsTG	XP_006723382.1:n.14614-285_14614-284delinsTG
XM_011527205.2:c.14560-285_14560-284delinsTG	XP_011525507.1:n.14560-285_14560-284delinsTG
NM_000540.3:c.14647-285_14647-284delinsTG MANE Select	NP_000531.2:n.14647-285_14647-284delinsTG
NM_001042723.2:c.14632-285_14632-284delinsTG	NP_001036188.1:n.14632-285_14632-284delinsTG