Canonical Allele Identifier: CA2584900667

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502755-G-GCAGGGGCAGGGGCAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502772_38502773insTCAGGGGCAGGGGCAGGG , CM000681.2:g.38502772_38502773insTCAGGGGCAGGGGCAGGG	GRCh38
NC_000019.9:g.38993412_38993413insTCAGGGGCAGGGGCAGGG , CM000681.1:g.38993412_38993413insTCAGGGGCAGGGGCAGGG	GRCh37
NC_000019.8:g.43685252_43685253insTCAGGGGCAGGGGCAGGG	NCBI36
NG_008866.1:g.74073_74074insTCAGGGGCAGGGGCAGGG , LRG_766:g.74073_74074insTCAGGGGCAGGGGCAGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	ENSP00000471601.2:n.7835+45_7835+46insTCA...
ENST00000359596.8:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG MANE Select	ENSP00000352608.2:n.7835+45_7835+46insTCA...
ENST00000355481.8:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	ENSP00000347667.3:n.7835+45_7835+46insTCA...
ENST00000359596.7:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	ENSP00000352608.2:n.7835+45_7835+46insTCA...
ENST00000360985.7:c.7832+45_7832+46insTCAGGGGCAGGGGCAGGG	ENSP00000354254.4:n.7832+45_7832+46insTCA...
ENST00000594335.5:c.1287+45_1287+46insTCAGGGGCAGGGGCAGGG
NM_000540.2:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG , LRG_766t1:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	NP_000531.2:n.7835+45_7835+46insTCAGGGGCA...
NM_001042723.1:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	NP_001036188.1:n.7835+45_7835+46insTCAGGG...
XM_006723317.1:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	XP_006723380.1:n.7835+45_7835+46insTCAGGG...
XM_006723319.1:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	XP_006723382.1:n.7835+45_7835+46insTCAGGG...
XM_011527204.1:c.7832+45_7832+46insTCAGGGGCAGGGGCAGGG	XP_011525506.1:n.7832+45_7832+46insTCAGGG...
XM_011527205.1:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	XP_011525507.1:n.7835+45_7835+46insTCAGGG...
XM_006723317.2:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	XP_006723380.1:n.7835+45_7835+46insTCAGGG...
XM_006723319.2:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	XP_006723382.1:n.7835+45_7835+46insTCAGGG...
XM_011527205.2:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	XP_011525507.1:n.7835+45_7835+46insTCAGGG...
XR_001753735.1:n.7918+45_7918+46insTCAGGGGCAGGGGCAGGG
NM_000540.3:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG MANE Select	NP_000531.2:n.7835+45_7835+46insTCAGGGGCA...
NM_001042723.2:c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG	NP_001036188.1:n.7835+45_7835+46insTCAGGG...