Canonical Allele Identifier: CA2584900652

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502751-T-TGGGGCAAGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502757_38502758insAGGGCAGGGGCA , CM000681.2:g.38502757_38502758insAGGGCAGGGGCA	GRCh38
NC_000019.9:g.38993397_38993398insAGGGCAGGGGCA , CM000681.1:g.38993397_38993398insAGGGCAGGGGCA	GRCh37
NC_000019.8:g.43685237_43685238insAGGGCAGGGGCA	NCBI36
NG_008866.1:g.74058_74059insAGGGCAGGGGCA , LRG_766:g.74058_74059insAGGGCAGGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+30_7835+31insAGGGCAGGGGCA	ENSP00000471601.2:n.7835+30_7835+31insAGGGCAGGGGCA
ENST00000359596.8:c.7835+30_7835+31insAGGGCAGGGGCA MANE Select	ENSP00000352608.2:n.7835+30_7835+31insAGGGCAGGGGCA
ENST00000355481.8:c.7835+30_7835+31insAGGGCAGGGGCA	ENSP00000347667.3:n.7835+30_7835+31insAGGGCAGGGGCA
ENST00000359596.7:c.7835+30_7835+31insAGGGCAGGGGCA	ENSP00000352608.2:n.7835+30_7835+31insAGGGCAGGGGCA
ENST00000360985.7:c.7832+30_7832+31insAGGGCAGGGGCA	ENSP00000354254.4:n.7832+30_7832+31insAGGGCAGGGGCA
ENST00000594335.5:c.1287+30_1287+31insAGGGCAGGGGCA
NM_000540.2:c.7835+30_7835+31insAGGGCAGGGGCA , LRG_766t1:c.7835+30_7835+31insAGGGCAGGGGCA	NP_000531.2:n.7835+30_7835+31insAGGGCAGGGGCA
NM_001042723.1:c.7835+30_7835+31insAGGGCAGGGGCA	NP_001036188.1:n.7835+30_7835+31insAGGGCAGGGGCA
XM_006723317.1:c.7835+30_7835+31insAGGGCAGGGGCA	XP_006723380.1:n.7835+30_7835+31insAGGGCAGGGGCA
XM_006723319.1:c.7835+30_7835+31insAGGGCAGGGGCA	XP_006723382.1:n.7835+30_7835+31insAGGGCAGGGGCA
XM_011527204.1:c.7832+30_7832+31insAGGGCAGGGGCA	XP_011525506.1:n.7832+30_7832+31insAGGGCAGGGGCA
XM_011527205.1:c.7835+30_7835+31insAGGGCAGGGGCA	XP_011525507.1:n.7835+30_7835+31insAGGGCAGGGGCA
XM_006723317.2:c.7835+30_7835+31insAGGGCAGGGGCA	XP_006723380.1:n.7835+30_7835+31insAGGGCAGGGGCA
XM_006723319.2:c.7835+30_7835+31insAGGGCAGGGGCA	XP_006723382.1:n.7835+30_7835+31insAGGGCAGGGGCA
XM_011527205.2:c.7835+30_7835+31insAGGGCAGGGGCA	XP_011525507.1:n.7835+30_7835+31insAGGGCAGGGGCA
XR_001753735.1:n.7918+30_7918+31insAGGGCAGGGGCA
NM_000540.3:c.7835+30_7835+31insAGGGCAGGGGCA MANE Select	NP_000531.2:n.7835+30_7835+31insAGGGCAGGGGCA
NM_001042723.2:c.7835+30_7835+31insAGGGCAGGGGCA	NP_001036188.1:n.7835+30_7835+31insAGGGCAGGGGCA