Canonical Allele Identifier: CA2584900635

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502751-T-TGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGTAGGGGCAGGGGCAGGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , CM000681.2:g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	GRCh38
NC_000019.9:g.38993431_38993432insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , CM000681.1:g.38993431_38993432insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	GRCh37
NC_000019.8:g.43685271_43685272insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	NCBI36
NG_008866.1:g.74092_74093insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , LRG_766:g.74092_74093insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	ENSP00000471601.2:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGG...
ENST00000359596.8:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG MANE Select	ENSP00000352608.2:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGG...
ENST00000355481.8:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	ENSP00000347667.3:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGG...
ENST00000359596.7:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	ENSP00000352608.2:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGG...
ENST00000360985.7:c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	ENSP00000354254.4:n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGG...
ENST00000594335.5:c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
NM_000540.2:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , LRG_766t1:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	NP_000531.2:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGG...
NM_001042723.1:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	NP_001036188.1:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_006723317.1:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_006723380.1:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_006723319.1:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_006723382.1:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_011527204.1:c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_011525506.1:n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_011527205.1:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_011525507.1:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_006723317.2:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_006723380.1:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_006723319.2:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_006723382.1:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_011527205.2:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_011525507.1:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCA...
XR_001753735.1:n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
NM_000540.3:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG MANE Select	NP_000531.2:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGG...
NM_001042723.2:c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	NP_001036188.1:n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCA...