Canonical Allele Identifier: CA2584902866

Gene: RYR1

Linked Data

• gnomAD v4: 19-38510844-TGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510847_38510849del , CM000681.2:g.38510847_38510849del	GRCh38
NC_000019.9:g.39001487_39001489del , CM000681.1:g.39001487_39001489del	GRCh37
NC_000019.8:g.43693327_43693329del	NCBI36
NG_008866.1:g.82148_82150del , LRG_766:g.82148_82150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9122+66_9122+68del	ENSP00000471601.2:n.9122+66_9122+68del
ENST00000359596.8:c.9122+66_9122+68del MANE Select	ENSP00000352608.2:n.9122+66_9122+68del
ENST00000355481.8:c.9122+66_9122+68del	ENSP00000347667.3:n.9122+66_9122+68del
ENST00000359596.7:c.9122+66_9122+68del	ENSP00000352608.2:n.9122+66_9122+68del
ENST00000360985.7:c.9119+66_9119+68del	ENSP00000354254.4:n.9119+66_9119+68del
ENST00000594335.5:c.2574+66_2574+68del
NM_000540.2:c.9122+66_9122+68del , LRG_766t1:c.9122+66_9122+68del	NP_000531.2:n.9122+66_9122+68del
NM_001042723.1:c.9122+66_9122+68del	NP_001036188.1:n.9122+66_9122+68del
XM_006723317.1:c.9122+66_9122+68del	XP_006723380.1:n.9122+66_9122+68del
XM_006723319.1:c.9122+66_9122+68del	XP_006723382.1:n.9122+66_9122+68del
XM_011527204.1:c.9119+66_9119+68del	XP_011525506.1:n.9119+66_9119+68del
XM_011527205.1:c.9122+66_9122+68del	XP_011525507.1:n.9122+66_9122+68del
XM_006723317.2:c.9122+66_9122+68del	XP_006723380.1:n.9122+66_9122+68del
XM_006723319.2:c.9122+66_9122+68del	XP_006723382.1:n.9122+66_9122+68del
XM_011527205.2:c.9122+66_9122+68del	XP_011525507.1:n.9122+66_9122+68del
XR_001753735.1:n.9205+66_9205+68del
NM_000540.3:c.9122+66_9122+68del MANE Select	NP_000531.2:n.9122+66_9122+68del
NM_001042723.2:c.9122+66_9122+68del	NP_001036188.1:n.9122+66_9122+68del