Canonical Allele Identifier: CA995718822

Gene: RYR1

Linked Data

• gnomAD v3: 19-38502824-GGGGCAGCAGAGC-G
• gnomAD v4: 19-38502824-GGGGCAGCAGAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502829_38502840del , CM000681.2:g.38502829_38502840del	GRCh38
NC_000019.9:g.38993469_38993480del , CM000681.1:g.38993469_38993480del	GRCh37
NC_000019.8:g.43685309_43685320del	NCBI36
NG_008866.1:g.74130_74141del , LRG_766:g.74130_74141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-51_7836-40del	ENSP00000471601.2:n.7836-51_7836-40del
ENST00000359596.8:c.7836-51_7836-40del MANE Select	ENSP00000352608.2:n.7836-51_7836-40del
ENST00000355481.8:c.7836-51_7836-40del	ENSP00000347667.3:n.7836-51_7836-40del
ENST00000359596.7:c.7836-51_7836-40del	ENSP00000352608.2:n.7836-51_7836-40del
ENST00000360985.7:c.7833-51_7833-40del	ENSP00000354254.4:n.7833-51_7833-40del
ENST00000594335.5:c.1288-51_1288-40del
NM_000540.2:c.7836-51_7836-40del , LRG_766t1:c.7836-51_7836-40del	NP_000531.2:n.7836-51_7836-40del
NM_001042723.1:c.7836-51_7836-40del	NP_001036188.1:n.7836-51_7836-40del
XM_006723317.1:c.7836-51_7836-40del	XP_006723380.1:n.7836-51_7836-40del
XM_006723319.1:c.7836-51_7836-40del	XP_006723382.1:n.7836-51_7836-40del
XM_011527204.1:c.7833-51_7833-40del	XP_011525506.1:n.7833-51_7833-40del
XM_011527205.1:c.7836-51_7836-40del	XP_011525507.1:n.7836-51_7836-40del
XM_006723317.2:c.7836-51_7836-40del	XP_006723380.1:n.7836-51_7836-40del
XM_006723319.2:c.7836-51_7836-40del	XP_006723382.1:n.7836-51_7836-40del
XM_011527205.2:c.7836-51_7836-40del	XP_011525507.1:n.7836-51_7836-40del
XR_001753735.1:n.7919-51_7919-40del
NM_000540.3:c.7836-51_7836-40del MANE Select	NP_000531.2:n.7836-51_7836-40del
NM_001042723.2:c.7836-51_7836-40del	NP_001036188.1:n.7836-51_7836-40del