Canonical Allele Identifier: CA2335096120

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587358_38587364delinsTGTTGGG , CM000681.2:g.38587358_38587364delinsTGTTGGG	GRCh38
NC_000019.9:g.39077998_39078004delinsTGTTGGG , CM000681.1:g.39077998_39078004delinsTGTTGGG	GRCh37
NC_000019.8:g.43769838_43769844delinsTGTTGGG	NCBI36
NG_008866.1:g.158659_158665delinsTGTTGGG , LRG_766:g.158659_158665delinsTGTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+782_1957+788delinsTGTTGGG
ENST00000688602.1:c.3388_3394delinsTGTTGGG
ENST00000689936.1:c.3360_3366delinsTGTTGGG
ENST00000692547.1:n.448_454delinsTGTTGGG
ENST00000359596.8:c.15055_15061delinsTGTTGGG MANE Select	ENSP00000352608.2:p.Cys5019=
ENST00000355481.8:c.15040_15046delinsTGTTGGG	ENSP00000347667.3:p.Cys5014=
ENST00000359596.7:c.15055_15061delinsTGTTGGG	ENSP00000352608.2:p.Cys5019=
ENST00000360985.7:c.15037_15043delinsTGTTGGG	ENSP00000354254.4:p.Cys5013=
NM_000540.2:c.15055_15061delinsTGTTGGG , LRG_766t1:c.15055_15061delinsTGTTGGG	NP_000531.2:p.Cys5019=
NM_001042723.1:c.15040_15046delinsTGTTGGG	NP_001036188.1:p.Cys5014=
XM_006723317.1:c.15037_15043delinsTGTTGGG	XP_006723380.1:p.Cys5013=
XM_006723319.1:c.15022_15028delinsTGTTGGG	XP_006723382.1:p.Cys5008=
XM_011527204.1:c.15052_15058delinsTGTTGGG	XP_011525506.1:p.Cys5018=
XM_011527205.1:c.14968_14974delinsTGTTGGG	XP_011525507.1:p.Cys4990=
XM_006723317.2:c.15037_15043delinsTGTTGGG	XP_006723380.1:p.Cys5013=
XM_006723319.2:c.15022_15028delinsTGTTGGG	XP_006723382.1:p.Cys5008=
XM_011527205.2:c.14968_14974delinsTGTTGGG	XP_011525507.1:p.Cys4990=
NM_000540.3:c.15055_15061delinsTGTTGGG MANE Select	NP_000531.2:p.Cys5019=
NM_001042723.2:c.15040_15046delinsTGTTGGG	NP_001036188.1:p.Cys5014=