Canonical Allele Identifier: CA633066352

Gene: RYR1

Linked Data

• dbSNP Id: rs1337772563
• gnomAD v2: 19-38993473-GAGC-G
• gnomAD v3: 19-38502833-GAGC-G
• gnomAD v4: 19-38502833-GAGC-G
• MyVariant Identifiers: chr19:g.38993474_38993476del (hg19) ; chr19:g.38502834_38502836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502834_38502836del , CM000681.2:g.38502834_38502836del	GRCh38
NC_000019.9:g.38993474_38993476del , CM000681.1:g.38993474_38993476del	GRCh37
NC_000019.8:g.43685314_43685316del	NCBI36
NG_008866.1:g.74135_74137del , LRG_766:g.74135_74137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-46_7836-44del	ENSP00000471601.2:n.7836-46_7836-44del
ENST00000359596.8:c.7836-46_7836-44del MANE Select	ENSP00000352608.2:n.7836-46_7836-44del
ENST00000355481.8:c.7836-46_7836-44del	ENSP00000347667.3:n.7836-46_7836-44del
ENST00000359596.7:c.7836-46_7836-44del	ENSP00000352608.2:n.7836-46_7836-44del
ENST00000360985.7:c.7833-46_7833-44del	ENSP00000354254.4:n.7833-46_7833-44del
ENST00000594335.5:c.1288-46_1288-44del
NM_000540.2:c.7836-46_7836-44del , LRG_766t1:c.7836-46_7836-44del	NP_000531.2:n.7836-46_7836-44del
NM_001042723.1:c.7836-46_7836-44del	NP_001036188.1:n.7836-46_7836-44del
XM_006723317.1:c.7836-46_7836-44del	XP_006723380.1:n.7836-46_7836-44del
XM_006723319.1:c.7836-46_7836-44del	XP_006723382.1:n.7836-46_7836-44del
XM_011527204.1:c.7833-46_7833-44del	XP_011525506.1:n.7833-46_7833-44del
XM_011527205.1:c.7836-46_7836-44del	XP_011525507.1:n.7836-46_7836-44del
XM_006723317.2:c.7836-46_7836-44del	XP_006723380.1:n.7836-46_7836-44del
XM_006723319.2:c.7836-46_7836-44del	XP_006723382.1:n.7836-46_7836-44del
XM_011527205.2:c.7836-46_7836-44del	XP_011525507.1:n.7836-46_7836-44del
XR_001753735.1:n.7919-46_7919-44del
NM_000540.3:c.7836-46_7836-44del MANE Select	NP_000531.2:n.7836-46_7836-44del
NM_001042723.2:c.7836-46_7836-44del	NP_001036188.1:n.7836-46_7836-44del