Canonical Allele Identifier: CA10642773

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565693_38565698dup , CM000681.2:g.38565693_38565698dup	GRCh38
NC_000019.9:g.39056333_39056338dup , CM000681.1:g.39056333_39056338dup	GRCh37
NC_000019.8:g.43748173_43748178dup	NCBI36
NG_008866.1:g.136994_136999dup , LRG_766:g.136994_136999dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.13359_13364dup MANE Select	NP_000531.2:p.Gly4455_Asp4456insLeuGly
ENST00000359596.8:c.13359_13364dup MANE Select	ENSP00000352608.2:p.Gly4455_Asp4456insLeuGly
NM_000540.2:c.13359_13364dup , LRG_766t1:c.13359_13364dup	NP_000531.2:p.Gly4455_Asp4456insLeuGly
NM_001042723.1:c.13344_13349dup	NP_001036188.1:p.Gly4450_Asp4451insLeuGly
NM_001042723.2:c.13344_13349dup	NP_001036188.1:p.Gly4450_Asp4451insLeuGly
ENST00000355481.8:c.13344_13349dup	ENSP00000347667.3:p.Gly4450_Asp4451insLeuGly
ENST00000359596.7:c.13359_13364dup	ENSP00000352608.2:p.Gly4455_Asp4456insLeuGly
ENST00000360985.7:c.13341_13346dup	ENSP00000354254.4:p.Gly4449_Asp4450insLeuGly
ENST00000593677.2:c.295_300dup
ENST00000688602.1:c.1769_1774dup
ENST00000689936.1:c.1751_1756dup
XM_006723317.1:c.13341_13346dup	XP_006723380.1:p.Gly4449_Asp4450insLeuGly
XM_006723317.2:c.13341_13346dup	XP_006723380.1:p.Gly4449_Asp4450insLeuGly
XM_006723319.1:c.13326_13331dup	XP_006723382.1:p.Gly4444_Asp4445insLeuGly
XM_006723319.2:c.13326_13331dup	XP_006723382.1:p.Gly4444_Asp4445insLeuGly
XM_011527204.1:c.13356_13361dup	XP_011525506.1:p.Gly4454_Asp4455insLeuGly
XM_011527205.1:c.13359_13364dup	XP_011525507.1:p.Gly4455_Asp4456insLeuGly
XM_011527205.2:c.13359_13364dup	XP_011525507.1:p.Gly4455_Asp4456insLeuGly