Canonical Allele Identifier: CA2335032556

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457924_38457936delinsTTCTCCCTGTCTC , CM000681.2:g.38457924_38457936delinsTTCTCCCTGTCTC	GRCh38
NC_000019.9:g.38948564_38948576delinsTTCTCCCTGTCTC , CM000681.1:g.38948564_38948576delinsTTCTCCCTGTCTC	GRCh37
NC_000019.8:g.43640404_43640416delinsTTCTCCCTGTCTC	NCBI36
NG_008866.1:g.29225_29237delinsTTCTCCCTGTCTC , LRG_766:g.29225_29237delinsTTCTCCCTGTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1926-127_1926-115delinsTTCTCCCTGTCTC	ENSP00000471601.2:n.1926-127_1926-115delinsTTCTCCCTGTCTC
ENST00000359596.8:c.1926-127_1926-115delinsTTCTCCCTGTCTC MANE Select	ENSP00000352608.2:n.1926-127_1926-115delinsTTCTCCCTGTCTC
ENST00000355481.8:c.1926-127_1926-115delinsTTCTCCCTGTCTC	ENSP00000347667.3:n.1926-127_1926-115delinsTTCTCCCTGTCTC
ENST00000359596.7:c.1926-127_1926-115delinsTTCTCCCTGTCTC	ENSP00000352608.2:n.1926-127_1926-115delinsTTCTCCCTGTCTC
ENST00000360985.7:c.1926-127_1926-115delinsTTCTCCCTGTCTC	ENSP00000354254.4:n.1926-127_1926-115delinsTTCTCCCTGTCTC
NM_000540.2:c.1926-127_1926-115delinsTTCTCCCTGTCTC , LRG_766t1:c.1926-127_1926-115delinsTTCTCCCTGTCTC	NP_000531.2:n.1926-127_1926-115delinsTTCTCCCTGTCTC
NM_001042723.1:c.1926-127_1926-115delinsTTCTCCCTGTCTC	NP_001036188.1:n.1926-127_1926-115delinsTTCTCCCTGTCTC
XM_006723317.1:c.1926-127_1926-115delinsTTCTCCCTGTCTC	XP_006723380.1:n.1926-127_1926-115delinsTTCTCCCTGTCTC
XM_006723319.1:c.1926-127_1926-115delinsTTCTCCCTGTCTC	XP_006723382.1:n.1926-127_1926-115delinsTTCTCCCTGTCTC
XM_011527204.1:c.1923-127_1923-115delinsTTCTCCCTGTCTC	XP_011525506.1:n.1923-127_1923-115delinsTTCTCCCTGTCTC
XM_011527205.1:c.1926-127_1926-115delinsTTCTCCCTGTCTC	XP_011525507.1:n.1926-127_1926-115delinsTTCTCCCTGTCTC
XM_006723317.2:c.1926-127_1926-115delinsTTCTCCCTGTCTC	XP_006723380.1:n.1926-127_1926-115delinsTTCTCCCTGTCTC
XM_006723319.2:c.1926-127_1926-115delinsTTCTCCCTGTCTC	XP_006723382.1:n.1926-127_1926-115delinsTTCTCCCTGTCTC
XM_011527205.2:c.1926-127_1926-115delinsTTCTCCCTGTCTC	XP_011525507.1:n.1926-127_1926-115delinsTTCTCCCTGTCTC
XR_001753735.1:n.2009-127_2009-115delinsTTCTCCCTGTCTC
NM_000540.3:c.1926-127_1926-115delinsTTCTCCCTGTCTC MANE Select	NP_000531.2:n.1926-127_1926-115delinsTTCTCCCTGTCTC
NM_001042723.2:c.1926-127_1926-115delinsTTCTCCCTGTCTC	NP_001036188.1:n.1926-127_1926-115delinsTTCTCCCTGTCTC