Canonical Allele Identifier: CA2580614897

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1355503
• ClinVar RCV Id: RCV001876522 ; RCV003132562
• dbSNP Id: rs2145895047
• gnomAD v4: 19-38580030-TACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580036_38580038del , CM000681.2:g.38580036_38580038del	GRCh38
NC_000019.9:g.39070676_39070678del , CM000681.1:g.39070676_39070678del	GRCh37
NC_000019.8:g.43762516_43762518del	NCBI36
NG_008866.1:g.151337_151339del , LRG_766:g.151337_151339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1355_1357del
ENST00000688602.1:c.2752_2754del
ENST00000689936.1:c.2724_2726del
ENST00000359596.8:c.14419_14421del MANE Select	ENSP00000352608.2:p.Asn4807del
ENST00000355481.8:c.14404_14406del	ENSP00000347667.3:p.Asn4802del
ENST00000359596.7:c.14419_14421del	ENSP00000352608.2:p.Asn4807del
ENST00000360985.7:c.14401_14403del	ENSP00000354254.4:p.Asn4801del
NM_000540.2:c.14419_14421del , LRG_766t1:c.14419_14421del	NP_000531.2:p.Asn4807del
NM_001042723.1:c.14404_14406del	NP_001036188.1:p.Asn4802del
XM_006723317.1:c.14401_14403del	XP_006723380.1:p.Asn4801del
XM_006723319.1:c.14386_14388del	XP_006723382.1:p.Asn4796del
XM_011527204.1:c.14416_14418del	XP_011525506.1:p.Asn4806del
XM_011527205.1:c.14332_14334del	XP_011525507.1:p.Asn4778del
XM_006723317.2:c.14401_14403del	XP_006723380.1:p.Asn4801del
XM_006723319.2:c.14386_14388del	XP_006723382.1:p.Asn4796del
XM_011527205.2:c.14332_14334del	XP_011525507.1:p.Asn4778del
NM_000540.3:c.14419_14421del MANE Select	NP_000531.2:p.Asn4807del
NM_001042723.2:c.14404_14406del	NP_001036188.1:p.Asn4802del