Canonical Allele Identifier: CA2584911261

Gene: RYR1

Linked Data

• gnomAD v4: 19-38580453-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580454_38580455del , CM000681.2:g.38580454_38580455del	GRCh38
NC_000019.9:g.39071094_39071095del , CM000681.1:g.39071094_39071095del	GRCh37
NC_000019.8:g.43762934_43762935del	NCBI36
NG_008866.1:g.151755_151756del , LRG_766:g.151755_151756del

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1532_1533del
ENST00000688602.1:c.2929_2930del
ENST00000689936.1:c.2901_2902del
ENST00000359596.8:c.14596_14597del MANE Select	ENSP00000352608.2:p.Lys4866GlufsTer4
ENST00000355481.8:c.14581_14582del	ENSP00000347667.3:p.Lys4861GlufsTer4
ENST00000359596.7:c.14596_14597del	ENSP00000352608.2:p.Lys4866GlufsTer4
ENST00000360985.7:c.14578_14579del	ENSP00000354254.4:p.Lys4860GlufsTer4
NM_000540.2:c.14596_14597del , LRG_766t1:c.14596_14597del	NP_000531.2:p.Lys4866GlufsTer4
NM_001042723.1:c.14581_14582del	NP_001036188.1:p.Lys4861GlufsTer4
XM_006723317.1:c.14578_14579del	XP_006723380.1:p.Lys4860GlufsTer4
XM_006723319.1:c.14563_14564del	XP_006723382.1:p.Lys4855GlufsTer4
XM_011527204.1:c.14593_14594del	XP_011525506.1:p.Lys4865GlufsTer4
XM_011527205.1:c.14509_14510del	XP_011525507.1:p.Lys4837GlufsTer4
XM_006723317.2:c.14578_14579del	XP_006723380.1:p.Lys4860GlufsTer4
XM_006723319.2:c.14563_14564del	XP_006723382.1:p.Lys4855GlufsTer4
XM_011527205.2:c.14509_14510del	XP_011525507.1:p.Lys4837GlufsTer4
NM_000540.3:c.14596_14597del MANE Select	NP_000531.2:p.Lys4866GlufsTer4
NM_001042723.2:c.14581_14582del	NP_001036188.1:p.Lys4861GlufsTer4