Canonical Allele Identifier: CA2335088363

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572052_38572053delinsGA , CM000681.2:g.38572052_38572053delinsGA	GRCh38
NC_000019.9:g.39062692_39062693delinsGA , CM000681.1:g.39062692_39062693delinsGA	GRCh37
NC_000019.8:g.43754532_43754533delinsGA	NCBI36
NG_008866.1:g.143353_143354delinsGA , LRG_766:g.143353_143354delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.716_717delinsGA
ENST00000688602.1:c.2113_2114delinsGA
ENST00000689936.1:c.2085_2086delinsGA
ENST00000359596.8:c.13780_13781delinsGA MANE Select	ENSP00000352608.2:p.Glu4594=
ENST00000355481.8:c.13765_13766delinsGA	ENSP00000347667.3:p.Glu4589=
ENST00000359596.7:c.13780_13781delinsGA	ENSP00000352608.2:p.Glu4594=
ENST00000360985.7:c.13762_13763delinsGA	ENSP00000354254.4:p.Glu4588=
ENST00000593677.1:c.240_241delinsGA
NM_000540.2:c.13780_13781delinsGA , LRG_766t1:c.13780_13781delinsGA	NP_000531.2:p.Glu4594=
NM_001042723.1:c.13765_13766delinsGA	NP_001036188.1:p.Glu4589=
XM_006723317.1:c.13762_13763delinsGA	XP_006723380.1:p.Glu4588=
XM_006723319.1:c.13747_13748delinsGA	XP_006723382.1:p.Glu4583=
XM_011527204.1:c.13777_13778delinsGA	XP_011525506.1:p.Glu4593=
XM_011527205.1:c.13693_13694delinsGA	XP_011525507.1:p.Glu4565=
XM_006723317.2:c.13762_13763delinsGA	XP_006723380.1:p.Glu4588=
XM_006723319.2:c.13747_13748delinsGA	XP_006723382.1:p.Glu4583=
XM_011527205.2:c.13693_13694delinsGA	XP_011525507.1:p.Glu4565=
NM_000540.3:c.13780_13781delinsGA MANE Select	NP_000531.2:p.Glu4594=
NM_001042723.2:c.13765_13766delinsGA	NP_001036188.1:p.Glu4589=