Canonical Allele Identifier: CA2576827639

Gene: RYR1

Linked Data

• gnomAD v4: 19-38587251-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587255_38587256del , CM000681.2:g.38587255_38587256del	GRCh38
NC_000019.9:g.39077895_39077896del , CM000681.1:g.39077895_39077896del	GRCh37
NC_000019.8:g.43769735_43769736del	NCBI36
NG_008866.1:g.158556_158557del , LRG_766:g.158556_158557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+679_1957+680del
ENST00000688602.1:c.3355-70_3355-69del
ENST00000689936.1:c.3327-70_3327-69del
ENST00000692547.1:n.415-70_415-69del
ENST00000359596.8:c.15022-70_15022-69del MANE Select	ENSP00000352608.2:n.15022-70_15022-69del
ENST00000355481.8:c.15007-70_15007-69del	ENSP00000347667.3:n.15007-70_15007-69del
ENST00000359596.7:c.15022-70_15022-69del	ENSP00000352608.2:n.15022-70_15022-69del
ENST00000360985.7:c.15004-70_15004-69del	ENSP00000354254.4:n.15004-70_15004-69del
NM_000540.2:c.15022-70_15022-69del , LRG_766t1:c.15022-70_15022-69del	NP_000531.2:n.15022-70_15022-69del
NM_001042723.1:c.15007-70_15007-69del	NP_001036188.1:n.15007-70_15007-69del
XM_006723317.1:c.15004-70_15004-69del	XP_006723380.1:n.15004-70_15004-69del
XM_006723319.1:c.14989-70_14989-69del	XP_006723382.1:n.14989-70_14989-69del
XM_011527204.1:c.15019-70_15019-69del	XP_011525506.1:n.15019-70_15019-69del
XM_011527205.1:c.14935-70_14935-69del	XP_011525507.1:n.14935-70_14935-69del
XM_006723317.2:c.15004-70_15004-69del	XP_006723380.1:n.15004-70_15004-69del
XM_006723319.2:c.14989-70_14989-69del	XP_006723382.1:n.14989-70_14989-69del
XM_011527205.2:c.14935-70_14935-69del	XP_011525507.1:n.14935-70_14935-69del
NM_000540.3:c.15022-70_15022-69del MANE Select	NP_000531.2:n.15022-70_15022-69del
NM_001042723.2:c.15007-70_15007-69del	NP_001036188.1:n.15007-70_15007-69del