Canonical Allele Identifier: CA2584894281

Gene: RYR1

Linked Data

• gnomAD v4: 19-38457417-GCTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457419_38457422del , CM000681.2:g.38457419_38457422del	GRCh38
NC_000019.9:g.38948059_38948062del , CM000681.1:g.38948059_38948062del	GRCh37
NC_000019.8:g.43639899_43639902del	NCBI36
NG_008866.1:g.28720_28723del , LRG_766:g.28720_28723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1792-78_1792-75del	ENSP00000471601.2:n.1792-78_1792-75del
ENST00000359596.8:c.1792-78_1792-75del MANE Select	ENSP00000352608.2:n.1792-78_1792-75del
ENST00000355481.8:c.1792-78_1792-75del	ENSP00000347667.3:n.1792-78_1792-75del
ENST00000359596.7:c.1792-78_1792-75del	ENSP00000352608.2:n.1792-78_1792-75del
ENST00000360985.7:c.1792-78_1792-75del	ENSP00000354254.4:n.1792-78_1792-75del
NM_000540.2:c.1792-78_1792-75del , LRG_766t1:c.1792-78_1792-75del	NP_000531.2:n.1792-78_1792-75del
NM_001042723.1:c.1792-78_1792-75del	NP_001036188.1:n.1792-78_1792-75del
XM_006723317.1:c.1792-78_1792-75del	XP_006723380.1:n.1792-78_1792-75del
XM_006723319.1:c.1792-78_1792-75del	XP_006723382.1:n.1792-78_1792-75del
XM_011527204.1:c.1789-78_1789-75del	XP_011525506.1:n.1789-78_1789-75del
XM_011527205.1:c.1792-78_1792-75del	XP_011525507.1:n.1792-78_1792-75del
XM_006723317.2:c.1792-78_1792-75del	XP_006723380.1:n.1792-78_1792-75del
XM_006723319.2:c.1792-78_1792-75del	XP_006723382.1:n.1792-78_1792-75del
XM_011527205.2:c.1792-78_1792-75del	XP_011525507.1:n.1792-78_1792-75del
XR_001753735.1:n.1875-78_1875-75del
NM_000540.3:c.1792-78_1792-75del MANE Select	NP_000531.2:n.1792-78_1792-75del
NM_001042723.2:c.1792-78_1792-75del	NP_001036188.1:n.1792-78_1792-75del