Canonical Allele Identifier: CA2580614898

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585063_38585068dup , CM000681.2:g.38585063_38585068dup	GRCh38
NC_000019.9:g.39075703_39075708dup , CM000681.1:g.39075703_39075708dup	GRCh37
NC_000019.8:g.43767543_43767548dup	NCBI36
NG_008866.1:g.156364_156369dup , LRG_766:g.156364_156369dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14767_14772dup MANE Select	NP_000531.2:p.Phe4924_Val4925insPhePhe
ENST00000359596.8:c.14767_14772dup MANE Select	ENSP00000352608.2:p.Phe4924_Val4925insPhePhe
NM_000540.2:c.14767_14772dup , LRG_766t1:c.14767_14772dup	NP_000531.2:p.Phe4924_Val4925insPhePhe
NM_001042723.1:c.14752_14757dup	NP_001036188.1:p.Phe4919_Val4920insPhePhe
NM_001042723.2:c.14752_14757dup	NP_001036188.1:p.Phe4919_Val4920insPhePhe
ENST00000355481.8:c.14752_14757dup	ENSP00000347667.3:p.Phe4919_Val4920insPhePhe
ENST00000359596.7:c.14767_14772dup	ENSP00000352608.2:p.Phe4924_Val4925insPhePhe
ENST00000360985.7:c.14749_14754dup	ENSP00000354254.4:p.Phe4918_Val4919insPhePhe
ENST00000593677.2:c.1703_1708dup
ENST00000688602.1:c.3100_3105dup
ENST00000689936.1:c.3072_3077dup
ENST00000692547.1:n.160_165dup
XM_006723317.1:c.14749_14754dup	XP_006723380.1:p.Phe4918_Val4919insPhePhe
XM_006723317.2:c.14749_14754dup	XP_006723380.1:p.Phe4918_Val4919insPhePhe
XM_006723319.1:c.14734_14739dup	XP_006723382.1:p.Phe4913_Val4914insPhePhe
XM_006723319.2:c.14734_14739dup	XP_006723382.1:p.Phe4913_Val4914insPhePhe
XM_011527204.1:c.14764_14769dup	XP_011525506.1:p.Phe4923_Val4924insPhePhe
XM_011527205.1:c.14680_14685dup	XP_011525507.1:p.Phe4895_Val4896insPhePhe
XM_011527205.2:c.14680_14685dup	XP_011525507.1:p.Phe4895_Val4896insPhePhe