Canonical Allele Identifier: CA2584900925

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502807-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502807_38502808insA , CM000681.2:g.38502807_38502808insA	GRCh38
NC_000019.9:g.38993447_38993448insA , CM000681.1:g.38993447_38993448insA	GRCh37
NC_000019.8:g.43685287_43685288insA	NCBI36
NG_008866.1:g.74108_74109insA , LRG_766:g.74108_74109insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-73_7836-72insA	ENSP00000471601.2:n.7836-73_7836-72insA
ENST00000359596.8:c.7836-73_7836-72insA MANE Select	ENSP00000352608.2:n.7836-73_7836-72insA
ENST00000355481.8:c.7836-73_7836-72insA	ENSP00000347667.3:n.7836-73_7836-72insA
ENST00000359596.7:c.7836-73_7836-72insA	ENSP00000352608.2:n.7836-73_7836-72insA
ENST00000360985.7:c.7833-73_7833-72insA	ENSP00000354254.4:n.7833-73_7833-72insA
ENST00000594335.5:c.1288-73_1288-72insA
NM_000540.2:c.7836-73_7836-72insA , LRG_766t1:c.7836-73_7836-72insA	NP_000531.2:n.7836-73_7836-72insA
NM_001042723.1:c.7836-73_7836-72insA	NP_001036188.1:n.7836-73_7836-72insA
XM_006723317.1:c.7836-73_7836-72insA	XP_006723380.1:n.7836-73_7836-72insA
XM_006723319.1:c.7836-73_7836-72insA	XP_006723382.1:n.7836-73_7836-72insA
XM_011527204.1:c.7833-73_7833-72insA	XP_011525506.1:n.7833-73_7833-72insA
XM_011527205.1:c.7836-73_7836-72insA	XP_011525507.1:n.7836-73_7836-72insA
XM_006723317.2:c.7836-73_7836-72insA	XP_006723380.1:n.7836-73_7836-72insA
XM_006723319.2:c.7836-73_7836-72insA	XP_006723382.1:n.7836-73_7836-72insA
XM_011527205.2:c.7836-73_7836-72insA	XP_011525507.1:n.7836-73_7836-72insA
XR_001753735.1:n.7919-73_7919-72insA
NM_000540.3:c.7836-73_7836-72insA MANE Select	NP_000531.2:n.7836-73_7836-72insA
NM_001042723.2:c.7836-73_7836-72insA	NP_001036188.1:n.7836-73_7836-72insA