Canonical Allele Identifier: CA2584910038

Gene: RYR1

Linked Data

• gnomAD v4: 19-38572123-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572128_38572130del , CM000681.2:g.38572128_38572130del	GRCh38
NC_000019.9:g.39062768_39062770del , CM000681.1:g.39062768_39062770del	GRCh37
NC_000019.8:g.43754608_43754610del	NCBI36
NG_008866.1:g.143429_143431del , LRG_766:g.143429_143431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.792_794del
ENST00000688602.1:c.2189_2191del
ENST00000689936.1:c.2161_2163del
ENST00000359596.8:c.13856_13858del MANE Select	ENSP00000352608.2:p.Glu4619del
ENST00000355481.8:c.13841_13843del	ENSP00000347667.3:p.Glu4614del
ENST00000359596.7:c.13856_13858del	ENSP00000352608.2:p.Glu4619del
ENST00000360985.7:c.13838_13840del	ENSP00000354254.4:p.Glu4613del
ENST00000593677.1:c.316_318del
NM_000540.2:c.13856_13858del , LRG_766t1:c.13856_13858del	NP_000531.2:p.Glu4619del
NM_001042723.1:c.13841_13843del	NP_001036188.1:p.Glu4614del
XM_006723317.1:c.13838_13840del	XP_006723380.1:p.Glu4613del
XM_006723319.1:c.13823_13825del	XP_006723382.1:p.Glu4608del
XM_011527204.1:c.13853_13855del	XP_011525506.1:p.Glu4618del
XM_011527205.1:c.13769_13771del	XP_011525507.1:p.Glu4590del
XM_006723317.2:c.13838_13840del	XP_006723380.1:p.Glu4613del
XM_006723319.2:c.13823_13825del	XP_006723382.1:p.Glu4608del
XM_011527205.2:c.13769_13771del	XP_011525507.1:p.Glu4590del
NM_000540.3:c.13856_13858del MANE Select	NP_000531.2:p.Glu4619del
NM_001042723.2:c.13841_13843del	NP_001036188.1:p.Glu4614del