Canonical Allele Identifier: CA9415823

Gene: RYR1

Linked Data

• ExAC: 19:38993373 GCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC / G
• MyVariant Identifiers: chr19:g.38993374_38993456del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502734_38502816del , CM000681.2:g.38502734_38502816del	GRCh38
NC_000019.9:g.38993374_38993456del , CM000681.1:g.38993374_38993456del	GRCh37
NC_000019.8:g.43685214_43685296del	NCBI36
NG_008866.1:g.74035_74117del , LRG_766:g.74035_74117del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7835+7_7836-64del	ENSP00000471601.2:n.7835+7_7836-64del
ENST00000359596.8:c.7835+7_7836-64del MANE Select	ENSP00000352608.2:n.7835+7_7836-64del
ENST00000355481.8:c.7835+7_7836-64del	ENSP00000347667.3:n.7835+7_7836-64del
ENST00000359596.7:c.7835+7_7836-64del	ENSP00000352608.2:n.7835+7_7836-64del
ENST00000360985.7:c.7832+7_7833-64del	ENSP00000354254.4:n.7832+7_7833-64del
ENST00000594335.5:c.1287+7_1288-64del
NM_000540.2:c.7835+7_7836-64del , LRG_766t1:c.7835+7_7836-64del	NP_000531.2:n.7835+7_7836-64del
NM_001042723.1:c.7835+7_7836-64del	NP_001036188.1:n.7835+7_7836-64del
XM_006723317.1:c.7835+7_7836-64del	XP_006723380.1:n.7835+7_7836-64del
XM_006723319.1:c.7835+7_7836-64del	XP_006723382.1:n.7835+7_7836-64del
XM_011527204.1:c.7832+7_7833-64del	XP_011525506.1:n.7832+7_7833-64del
XM_011527205.1:c.7835+7_7836-64del	XP_011525507.1:n.7835+7_7836-64del
XM_006723317.2:c.7835+7_7836-64del	XP_006723380.1:n.7835+7_7836-64del
XM_006723319.2:c.7835+7_7836-64del	XP_006723382.1:n.7835+7_7836-64del
XM_011527205.2:c.7835+7_7836-64del	XP_011525507.1:n.7835+7_7836-64del
XR_001753735.1:n.7918+7_7919-64del
NM_000540.3:c.7835+7_7836-64del MANE Select	NP_000531.2:n.7835+7_7836-64del
NM_001042723.2:c.7835+7_7836-64del	NP_001036188.1:n.7835+7_7836-64del