Canonical Allele Identifier: CA2580097181

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2435572
• ClinVar RCV Id: RCV003130456
• gnomAD v4: 19-38565219-GCGGGTTGTGGCGGCCGCAGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565224_38565244del , CM000681.2:g.38565224_38565244del	GRCh38
NC_000019.9:g.39055864_39055884del , CM000681.1:g.39055864_39055884del	GRCh37
NC_000019.8:g.43747704_43747724del	NCBI36
NG_008866.1:g.136525_136545del , LRG_766:g.136525_136545del

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1300_1320del
ENST00000689936.1:c.1282_1302del
ENST00000359596.8:c.12890_12910del MANE Select	ENSP00000352608.2:p.Val4297_Arg4303del
ENST00000355481.8:c.12875_12895del	ENSP00000347667.3:p.Val4292_Arg4298del
ENST00000359596.7:c.12890_12910del	ENSP00000352608.2:p.Val4297_Arg4303del
ENST00000360985.7:c.12872_12892del	ENSP00000354254.4:p.Val4291_Arg4297del
NM_000540.2:c.12890_12910del , LRG_766t1:c.12890_12910del	NP_000531.2:p.Val4297_Arg4303del
NM_001042723.1:c.12875_12895del	NP_001036188.1:p.Val4292_Arg4298del
XM_006723317.1:c.12872_12892del	XP_006723380.1:p.Val4291_Arg4297del
XM_006723319.1:c.12857_12877del	XP_006723382.1:p.Val4286_Arg4292del
XM_011527204.1:c.12887_12907del	XP_011525506.1:p.Val4296_Arg4302del
XM_011527205.1:c.12890_12910del	XP_011525507.1:p.Val4297_Arg4303del
XM_006723317.2:c.12872_12892del	XP_006723380.1:p.Val4291_Arg4297del
XM_006723319.2:c.12857_12877del	XP_006723382.1:p.Val4286_Arg4292del
XM_011527205.2:c.12890_12910del	XP_011525507.1:p.Val4297_Arg4303del
NM_000540.3:c.12890_12910del MANE Select	NP_000531.2:p.Val4297_Arg4303del
NM_001042723.2:c.12875_12895del	NP_001036188.1:p.Val4292_Arg4298del