Canonical Allele Identifier: CA2512743611

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565004_38565005insCCTAT , CM000681.2:g.38565004_38565005insCCTAT	GRCh38
NC_000019.9:g.39055644_39055645insCCTAT , CM000681.1:g.39055644_39055645insCCTAT	GRCh37
NC_000019.8:g.43747484_43747485insCCTAT	NCBI36
NG_008866.1:g.136305_136306insCCTAT , LRG_766:g.136305_136306insCCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1080_1081insCCTAT
ENST00000689936.1:c.1062_1063insCCTAT
ENST00000359596.8:c.12670_12671insCCTAT MANE Select	ENSP00000352608.2:p.Gly4224AlafsTer13
ENST00000355481.8:c.12655_12656insCCTAT	ENSP00000347667.3:p.Gly4219AlafsTer13
ENST00000359596.7:c.12670_12671insCCTAT	ENSP00000352608.2:p.Gly4224AlafsTer13
ENST00000360985.7:c.12652_12653insCCTAT	ENSP00000354254.4:p.Gly4218AlafsTer13
ENST00000594335.5:c.6039_6040insCCTAT
NM_000540.2:c.12670_12671insCCTAT , LRG_766t1:c.12670_12671insCCTAT	NP_000531.2:p.Gly4224AlafsTer13
NM_001042723.1:c.12655_12656insCCTAT	NP_001036188.1:p.Gly4219AlafsTer13
XM_006723317.1:c.12652_12653insCCTAT	XP_006723380.1:p.Gly4218AlafsTer13
XM_006723319.1:c.12637_12638insCCTAT	XP_006723382.1:p.Gly4213AlafsTer13
XM_011527204.1:c.12667_12668insCCTAT	XP_011525506.1:p.Gly4223AlafsTer13
XM_011527205.1:c.12670_12671insCCTAT	XP_011525507.1:p.Gly4224AlafsTer13
XM_006723317.2:c.12652_12653insCCTAT	XP_006723380.1:p.Gly4218AlafsTer13
XM_006723319.2:c.12637_12638insCCTAT	XP_006723382.1:p.Gly4213AlafsTer13
XM_011527205.2:c.12670_12671insCCTAT	XP_011525507.1:p.Gly4224AlafsTer13
NM_000540.3:c.12670_12671insCCTAT MANE Select	NP_000531.2:p.Gly4224AlafsTer13
NM_001042723.2:c.12655_12656insCCTAT	NP_001036188.1:p.Gly4219AlafsTer13