Canonical Allele Identifier: CA2584902841

Gene: RYR1

Linked Data

• gnomAD v4: 19-38510758-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510759_38510761del , CM000681.2:g.38510759_38510761del	GRCh38
NC_000019.9:g.39001399_39001401del , CM000681.1:g.39001399_39001401del	GRCh37
NC_000019.8:g.43693239_43693241del	NCBI36
NG_008866.1:g.82060_82062del , LRG_766:g.82060_82062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9100_9102del	ENSP00000471601.2:p.Lys3034del
ENST00000359596.8:c.9100_9102del MANE Select	ENSP00000352608.2:p.Lys3034del
ENST00000355481.8:c.9100_9102del	ENSP00000347667.3:p.Lys3034del
ENST00000359596.7:c.9100_9102del	ENSP00000352608.2:p.Lys3034del
ENST00000360985.7:c.9097_9099del	ENSP00000354254.4:p.Lys3033del
ENST00000594335.5:c.2552_2554del
NM_000540.2:c.9100_9102del , LRG_766t1:c.9100_9102del	NP_000531.2:p.Lys3034del
NM_001042723.1:c.9100_9102del	NP_001036188.1:p.Lys3034del
XM_006723317.1:c.9100_9102del	XP_006723380.1:p.Lys3034del
XM_006723319.1:c.9100_9102del	XP_006723382.1:p.Lys3034del
XM_011527204.1:c.9097_9099del	XP_011525506.1:p.Lys3033del
XM_011527205.1:c.9100_9102del	XP_011525507.1:p.Lys3034del
XM_006723317.2:c.9100_9102del	XP_006723380.1:p.Lys3034del
XM_006723319.2:c.9100_9102del	XP_006723382.1:p.Lys3034del
XM_011527205.2:c.9100_9102del	XP_011525507.1:p.Lys3034del
XR_001753735.1:n.9183_9185del
NM_000540.3:c.9100_9102del MANE Select	NP_000531.2:p.Lys3034del
NM_001042723.2:c.9100_9102del	NP_001036188.1:p.Lys3034del