Canonical Allele Identifier: CA2535042797

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502751-T-TGGGGGTGGGGCAGGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502755_38502756insGTGGGGCAGGGGCAGGGG , CM000681.2:g.38502755_38502756insGTGGGGCAGGGGCAGGGG	GRCh38
NC_000019.9:g.38993395_38993396insGTGGGGCAGGGGCAGGGG , CM000681.1:g.38993395_38993396insGTGGGGCAGGGGCAGGGG	GRCh37
NC_000019.8:g.43685235_43685236insGTGGGGCAGGGGCAGGGG	NCBI36
NG_008866.1:g.74056_74057insGTGGGGCAGGGGCAGGGG , LRG_766:g.74056_74057insGTGGGGCAGGGGCAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	ENSP00000471601.2:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
ENST00000359596.8:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG MANE Select	ENSP00000352608.2:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
ENST00000355481.8:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	ENSP00000347667.3:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
ENST00000359596.7:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	ENSP00000352608.2:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
ENST00000360985.7:c.7832+28_7832+29insGTGGGGCAGGGGCAGGGG	ENSP00000354254.4:n.7832+28_7832+29insGTGGGGCAGGGGCAGGGG
ENST00000594335.5:c.1287+28_1287+29insGTGGGGCAGGGGCAGGGG
NM_000540.2:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG , LRG_766t1:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	NP_000531.2:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
NM_001042723.1:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	NP_001036188.1:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
XM_006723317.1:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	XP_006723380.1:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
XM_006723319.1:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	XP_006723382.1:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
XM_011527204.1:c.7832+28_7832+29insGTGGGGCAGGGGCAGGGG	XP_011525506.1:n.7832+28_7832+29insGTGGGGCAGGGGCAGGGG
XM_011527205.1:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	XP_011525507.1:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
XM_006723317.2:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	XP_006723380.1:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
XM_006723319.2:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	XP_006723382.1:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
XM_011527205.2:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	XP_011525507.1:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
XR_001753735.1:n.7918+28_7918+29insGTGGGGCAGGGGCAGGGG
NM_000540.3:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG MANE Select	NP_000531.2:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG
NM_001042723.2:c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG	NP_001036188.1:n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG