Canonical Allele Identifier: CA2584901027

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502816-C-CAGAGCGGGCCTGGACGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502818_38502819insAGCGGGCCTGGACGGGGGGGGGAG , CM000681.2:g.38502818_38502819insAGCGGGCCTGGACGGGGGGGGGAG	GRCh38
NC_000019.9:g.38993458_38993459insAGCGGGCCTGGACGGGGGGGGGAG , CM000681.1:g.38993458_38993459insAGCGGGCCTGGACGGGGGGGGGAG	GRCh37
NC_000019.8:g.43685298_43685299insAGCGGGCCTGGACGGGGGGGGGAG	NCBI36
NG_008866.1:g.74119_74120insAGCGGGCCTGGACGGGGGGGGGAG , LRG_766:g.74119_74120insAGCGGGCCTGGACGGGGGGGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	ENSP00000471601.2:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGA...
ENST00000359596.8:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG MANE Select	ENSP00000352608.2:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGA...
ENST00000355481.8:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	ENSP00000347667.3:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGA...
ENST00000359596.7:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	ENSP00000352608.2:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGA...
ENST00000360985.7:c.7833-62_7833-61insAGCGGGCCTGGACGGGGGGGGGAG	ENSP00000354254.4:n.7833-62_7833-61insAGCGGGCCTGGACGGGGGGGGGA...
ENST00000594335.5:c.1288-62_1288-61insAGCGGGCCTGGACGGGGGGGGGAG
NM_000540.2:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG , LRG_766t1:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	NP_000531.2:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG
NM_001042723.1:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	NP_001036188.1:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG
XM_006723317.1:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	XP_006723380.1:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG
XM_006723319.1:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	XP_006723382.1:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG
XM_011527204.1:c.7833-62_7833-61insAGCGGGCCTGGACGGGGGGGGGAG	XP_011525506.1:n.7833-62_7833-61insAGCGGGCCTGGACGGGGGGGGGAG
XM_011527205.1:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	XP_011525507.1:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG
XM_006723317.2:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	XP_006723380.1:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG
XM_006723319.2:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	XP_006723382.1:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG
XM_011527205.2:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	XP_011525507.1:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG
XR_001753735.1:n.7919-62_7919-61insAGCGGGCCTGGACGGGGGGGGGAG
NM_000540.3:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG MANE Select	NP_000531.2:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG
NM_001042723.2:c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG	NP_001036188.1:n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG