Canonical Allele Identifier: CA308107151

Gene: RYR1

Linked Data

• ClinVar Variation Id: 670494
• ClinVar RCV Id: RCV000829647
• dbSNP Id: rs3842417
• gnomAD v2: 19-38989658-CGCAGG-C
• gnomAD v3: 19-38499018-CGCAGG-C
• gnomAD v4: 19-38499018-CGCAGG-C
• MyVariant Identifiers: chr19:g.38989659_38989663del (hg19) ; chr19:g.38499019_38499023del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499038_38499042del , CM000681.2:g.38499038_38499042del	GRCh38
NC_000019.9:g.38989678_38989682del , CM000681.1:g.38989678_38989682del	GRCh37
NC_000019.8:g.43681518_43681522del	NCBI36
NG_008866.1:g.70339_70343del , LRG_766:g.70339_70343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6892-70_6892-66del	ENSP00000471601.2:n.6892-70_6892-66del
ENST00000359596.8:c.6892-70_6892-66del MANE Select	ENSP00000352608.2:n.6892-70_6892-66del
ENST00000355481.8:c.6892-70_6892-66del	ENSP00000347667.3:n.6892-70_6892-66del
ENST00000359596.7:c.6892-70_6892-66del	ENSP00000352608.2:n.6892-70_6892-66del
ENST00000360985.7:c.6889-70_6889-66del	ENSP00000354254.4:n.6889-70_6889-66del
ENST00000594335.5:c.344-70_344-66del
NM_000540.2:c.6892-70_6892-66del , LRG_766t1:c.6892-70_6892-66del	NP_000531.2:n.6892-70_6892-66del
NM_001042723.1:c.6892-70_6892-66del	NP_001036188.1:n.6892-70_6892-66del
XM_006723317.1:c.6892-70_6892-66del	XP_006723380.1:n.6892-70_6892-66del
XM_006723319.1:c.6892-70_6892-66del	XP_006723382.1:n.6892-70_6892-66del
XM_011527204.1:c.6889-70_6889-66del	XP_011525506.1:n.6889-70_6889-66del
XM_011527205.1:c.6892-70_6892-66del	XP_011525507.1:n.6892-70_6892-66del
XM_006723317.2:c.6892-70_6892-66del	XP_006723380.1:n.6892-70_6892-66del
XM_006723319.2:c.6892-70_6892-66del	XP_006723382.1:n.6892-70_6892-66del
XM_011527205.2:c.6892-70_6892-66del	XP_011525507.1:n.6892-70_6892-66del
XR_001753735.1:n.6975-70_6975-66del
NM_000540.3:c.6892-70_6892-66del MANE Select	NP_000531.2:n.6892-70_6892-66del
NM_001042723.2:c.6892-70_6892-66del	NP_001036188.1:n.6892-70_6892-66del