Canonical Allele Identifier: CA2335088965

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573179_38573180delinsGC , CM000681.2:g.38573179_38573180delinsGC	GRCh38
NC_000019.9:g.39063819_39063820delinsGC , CM000681.1:g.39063819_39063820delinsGC	GRCh37
NC_000019.8:g.43755659_43755660delinsGC	NCBI36
NG_008866.1:g.144480_144481delinsGC , LRG_766:g.144480_144481delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.937_938delinsGC
ENST00000688602.1:c.2334_2335delinsGC
ENST00000689936.1:c.2306_2307delinsGC
ENST00000359596.8:c.14001_14002delinsGC MANE Select	ENSP00000352608.2:p.Val4667=
ENST00000355481.8:c.13986_13987delinsGC	ENSP00000347667.3:p.Val4662=
ENST00000359596.7:c.14001_14002delinsGC	ENSP00000352608.2:p.Val4667=
ENST00000360985.7:c.13983_13984delinsGC	ENSP00000354254.4:p.Val4661=
NM_000540.2:c.14001_14002delinsGC , LRG_766t1:c.14001_14002delinsGC	NP_000531.2:p.Val4667=
NM_001042723.1:c.13986_13987delinsGC	NP_001036188.1:p.Val4662=
XM_006723317.1:c.13983_13984delinsGC	XP_006723380.1:p.Val4661=
XM_006723319.1:c.13968_13969delinsGC	XP_006723382.1:p.Val4656=
XM_011527204.1:c.13998_13999delinsGC	XP_011525506.1:p.Val4666=
XM_011527205.1:c.13914_13915delinsGC	XP_011525507.1:p.Val4638=
XM_006723317.2:c.13983_13984delinsGC	XP_006723380.1:p.Val4661=
XM_006723319.2:c.13968_13969delinsGC	XP_006723382.1:p.Val4656=
XM_011527205.2:c.13914_13915delinsGC	XP_011525507.1:p.Val4638=
NM_000540.3:c.14001_14002delinsGC MANE Select	NP_000531.2:p.Val4667=
NM_001042723.2:c.13986_13987delinsGC	NP_001036188.1:p.Val4662=