Canonical Allele Identifier: CA2335092485

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580445_38580463delinsTTCTACAACAAGAGCGAGG , CM000681.2:g.38580445_38580463delinsTTCTACAACAAGAGCGAGG	GRCh38
NC_000019.9:g.39071085_39071103delinsTTCTACAACAAGAGCGAGG , CM000681.1:g.39071085_39071103delinsTTCTACAACAAGAGCGAGG	GRCh37
NC_000019.8:g.43762925_43762943delinsTTCTACAACAAGAGCGAGG	NCBI36
NG_008866.1:g.151746_151764delinsTTCTACAACAAGAGCGAGG , LRG_766:g.151746_151764delinsTTCTACAACAAGAGCGAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1523_1541delinsTTCTACAACAAGAGCGAGG
ENST00000688602.1:c.2920_2938delinsTTCTACAACAAGAGCGAGG
ENST00000689936.1:c.2892_2910delinsTTCTACAACAAGAGCGAGG
ENST00000359596.8:c.14587_14605delinsTTCTACAACAAGAGCGAGG MANE Select	ENSP00000352608.2:p.Phe4863=
ENST00000355481.8:c.14572_14590delinsTTCTACAACAAGAGCGAGG	ENSP00000347667.3:p.Phe4858=
ENST00000359596.7:c.14587_14605delinsTTCTACAACAAGAGCGAGG	ENSP00000352608.2:p.Phe4863=
ENST00000360985.7:c.14569_14587delinsTTCTACAACAAGAGCGAGG	ENSP00000354254.4:p.Phe4857=
NM_000540.2:c.14587_14605delinsTTCTACAACAAGAGCGAGG , LRG_766t1:c.14587_14605delinsTTCTACAACAAGAGCGAGG	NP_000531.2:p.Phe4863=
NM_001042723.1:c.14572_14590delinsTTCTACAACAAGAGCGAGG	NP_001036188.1:p.Phe4858=
XM_006723317.1:c.14569_14587delinsTTCTACAACAAGAGCGAGG	XP_006723380.1:p.Phe4857=
XM_006723319.1:c.14554_14572delinsTTCTACAACAAGAGCGAGG	XP_006723382.1:p.Phe4852=
XM_011527204.1:c.14584_14602delinsTTCTACAACAAGAGCGAGG	XP_011525506.1:p.Phe4862=
XM_011527205.1:c.14500_14518delinsTTCTACAACAAGAGCGAGG	XP_011525507.1:p.Phe4834=
XM_006723317.2:c.14569_14587delinsTTCTACAACAAGAGCGAGG	XP_006723380.1:p.Phe4857=
XM_006723319.2:c.14554_14572delinsTTCTACAACAAGAGCGAGG	XP_006723382.1:p.Phe4852=
XM_011527205.2:c.14500_14518delinsTTCTACAACAAGAGCGAGG	XP_011525507.1:p.Phe4834=
NM_000540.3:c.14587_14605delinsTTCTACAACAAGAGCGAGG MANE Select	NP_000531.2:p.Phe4863=
NM_001042723.2:c.14572_14590delinsTTCTACAACAAGAGCGAGG	NP_001036188.1:p.Phe4858=