Canonical Allele Identifier: CA2584900643

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502751-T-TGGGGCAGGGGCAGGGGCAGGCTTCAGGGTGGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502771_38502772insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG , CM000681.2:g.38502771_38502772insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	GRCh38
NC_000019.9:g.38993411_38993412insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG , CM000681.1:g.38993411_38993412insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	GRCh37
NC_000019.8:g.43685251_43685252insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	NCBI36
NG_008866.1:g.74072_74073insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG , LRG_766:g.74072_74073insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	ENSP00000471601.2:n.7835+44_7835+45insCTT...
ENST00000359596.8:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG MANE Select	ENSP00000352608.2:n.7835+44_7835+45insCTT...
ENST00000355481.8:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	ENSP00000347667.3:n.7835+44_7835+45insCTT...
ENST00000359596.7:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	ENSP00000352608.2:n.7835+44_7835+45insCTT...
ENST00000360985.7:c.7832+44_7832+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	ENSP00000354254.4:n.7832+44_7832+45insCTT...
ENST00000594335.5:c.1287+44_1287+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
NM_000540.2:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG , LRG_766t1:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	NP_000531.2:n.7835+44_7835+45insCTTCAGGGT...
NM_001042723.1:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	NP_001036188.1:n.7835+44_7835+45insCTTCAG...
XM_006723317.1:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	XP_006723380.1:n.7835+44_7835+45insCTTCAG...
XM_006723319.1:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	XP_006723382.1:n.7835+44_7835+45insCTTCAG...
XM_011527204.1:c.7832+44_7832+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	XP_011525506.1:n.7832+44_7832+45insCTTCAG...
XM_011527205.1:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	XP_011525507.1:n.7835+44_7835+45insCTTCAG...
XM_006723317.2:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	XP_006723380.1:n.7835+44_7835+45insCTTCAG...
XM_006723319.2:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	XP_006723382.1:n.7835+44_7835+45insCTTCAG...
XM_011527205.2:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	XP_011525507.1:n.7835+44_7835+45insCTTCAG...
XR_001753735.1:n.7918+44_7918+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
NM_000540.3:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG MANE Select	NP_000531.2:n.7835+44_7835+45insCTTCAGGGT...
NM_001042723.2:c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG	NP_001036188.1:n.7835+44_7835+45insCTTCAG...