Canonical Allele Identifier: CA995717362

Gene: RYR1

Linked Data

• gnomAD v3: 19-38502747-AGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG-A
• gnomAD v4: 19-38502747-AGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502751_38502810del , CM000681.2:g.38502751_38502810del	GRCh38
NC_000019.9:g.38993391_38993450del , CM000681.1:g.38993391_38993450del	GRCh37
NC_000019.8:g.43685231_43685290del	NCBI36
NG_008866.1:g.74052_74111del , LRG_766:g.74052_74111del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7835+24_7836-70del	ENSP00000471601.2:n.7835+24_7836-70del
ENST00000359596.8:c.7835+24_7836-70del MANE Select	ENSP00000352608.2:n.7835+24_7836-70del
ENST00000355481.8:c.7835+24_7836-70del	ENSP00000347667.3:n.7835+24_7836-70del
ENST00000359596.7:c.7835+24_7836-70del	ENSP00000352608.2:n.7835+24_7836-70del
ENST00000360985.7:c.7832+24_7833-70del	ENSP00000354254.4:n.7832+24_7833-70del
ENST00000594335.5:c.1287+24_1288-70del
NM_000540.2:c.7835+24_7836-70del , LRG_766t1:c.7835+24_7836-70del	NP_000531.2:n.7835+24_7836-70del
NM_001042723.1:c.7835+24_7836-70del	NP_001036188.1:n.7835+24_7836-70del
XM_006723317.1:c.7835+24_7836-70del	XP_006723380.1:n.7835+24_7836-70del
XM_006723319.1:c.7835+24_7836-70del	XP_006723382.1:n.7835+24_7836-70del
XM_011527204.1:c.7832+24_7833-70del	XP_011525506.1:n.7832+24_7833-70del
XM_011527205.1:c.7835+24_7836-70del	XP_011525507.1:n.7835+24_7836-70del
XM_006723317.2:c.7835+24_7836-70del	XP_006723380.1:n.7835+24_7836-70del
XM_006723319.2:c.7835+24_7836-70del	XP_006723382.1:n.7835+24_7836-70del
XM_011527205.2:c.7835+24_7836-70del	XP_011525507.1:n.7835+24_7836-70del
XR_001753735.1:n.7918+24_7919-70del
NM_000540.3:c.7835+24_7836-70del MANE Select	NP_000531.2:n.7835+24_7836-70del
NM_001042723.2:c.7835+24_7836-70del	NP_001036188.1:n.7835+24_7836-70del