Canonical Allele Identifier: CA308114154

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572213_38572218delinsCTGAGC , CM000681.2:g.38572213_38572218delinsCTGAGC	GRCh38
NC_000019.9:g.39062853_39062858delinsCTGAGC , CM000681.1:g.39062853_39062858delinsCTGAGC	GRCh37
NC_000019.8:g.43754693_43754698delinsCTGAGC	NCBI36
NG_008866.1:g.143514_143519delinsCTGAGC , LRG_766:g.143514_143519delinsCTGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.877_882delinsCTGAGC
ENST00000688602.1:c.2274_2279delinsCTGAGC
ENST00000689936.1:c.2246_2251delinsCTGAGC
ENST00000359596.8:c.13941_13946delinsCTGAGC MANE Select	ENSP00000352608.2:p.Leu4648Ter
ENST00000355481.8:c.13926_13931delinsCTGAGC	ENSP00000347667.3:p.Leu4643Ter
ENST00000359596.7:c.13941_13946delinsCTGAGC	ENSP00000352608.2:p.Leu4648Ter
ENST00000360985.7:c.13923_13928delinsCTGAGC	ENSP00000354254.4:p.Leu4642Ter
ENST00000593677.1:c.401_406delinsCTGAGC
NM_000540.2:c.13941_13946delinsCTGAGC , LRG_766t1:c.13941_13946delinsCTGAGC	NP_000531.2:p.Leu4648Ter
NM_001042723.1:c.13926_13931delinsCTGAGC	NP_001036188.1:p.Leu4643Ter
XM_006723317.1:c.13923_13928delinsCTGAGC	XP_006723380.1:p.Leu4642Ter
XM_006723319.1:c.13908_13913delinsCTGAGC	XP_006723382.1:p.Leu4637Ter
XM_011527204.1:c.13938_13943delinsCTGAGC	XP_011525506.1:p.Leu4647Ter
XM_011527205.1:c.13854_13859delinsCTGAGC	XP_011525507.1:p.Leu4619Ter
XM_006723317.2:c.13923_13928delinsCTGAGC	XP_006723380.1:p.Leu4642Ter
XM_006723319.2:c.13908_13913delinsCTGAGC	XP_006723382.1:p.Leu4637Ter
XM_011527205.2:c.13854_13859delinsCTGAGC	XP_011525507.1:p.Leu4619Ter
NM_000540.3:c.13941_13946delinsCTGAGC MANE Select	NP_000531.2:p.Leu4648Ter
NM_001042723.2:c.13926_13931delinsCTGAGC	NP_001036188.1:p.Leu4643Ter