Canonical Allele Identifier: CA2584899604

Gene: RYR1

Linked Data

• gnomAD v4: 19-38496428-T-TGGTGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496429_38496434dup , CM000681.2:g.38496429_38496434dup	GRCh38
NC_000019.9:g.38987069_38987074dup , CM000681.1:g.38987069_38987074dup	GRCh37
NC_000019.8:g.43678909_43678914dup	NCBI36
NG_008866.1:g.67730_67735dup , LRG_766:g.67730_67735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6684_6689dup	ENSP00000471601.2:p.Thr2230_Ser2231insValThr
ENST00000359596.8:c.6684_6689dup MANE Select	ENSP00000352608.2:p.Thr2230_Ser2231insValThr
ENST00000355481.8:c.6684_6689dup	ENSP00000347667.3:p.Thr2230_Ser2231insValThr
ENST00000359596.7:c.6684_6689dup	ENSP00000352608.2:p.Thr2230_Ser2231insValThr
ENST00000360985.7:c.6681_6686dup	ENSP00000354254.4:p.Thr2229_Ser2230insValThr
ENST00000594335.5:c.136_141dup
NM_000540.2:c.6684_6689dup , LRG_766t1:c.6684_6689dup	NP_000531.2:p.Thr2230_Ser2231insValThr
NM_001042723.1:c.6684_6689dup	NP_001036188.1:p.Thr2230_Ser2231insValThr
XM_006723317.1:c.6684_6689dup	XP_006723380.1:p.Thr2230_Ser2231insValThr
XM_006723319.1:c.6684_6689dup	XP_006723382.1:p.Thr2230_Ser2231insValThr
XM_011527204.1:c.6681_6686dup	XP_011525506.1:p.Thr2229_Ser2230insValThr
XM_011527205.1:c.6684_6689dup	XP_011525507.1:p.Thr2230_Ser2231insValThr
XM_006723317.2:c.6684_6689dup	XP_006723380.1:p.Thr2230_Ser2231insValThr
XM_006723319.2:c.6684_6689dup	XP_006723382.1:p.Thr2230_Ser2231insValThr
XM_011527205.2:c.6684_6689dup	XP_011525507.1:p.Thr2230_Ser2231insValThr
XR_001753735.1:n.6767_6772dup
NM_000540.3:c.6684_6689dup MANE Select	NP_000531.2:p.Thr2230_Ser2231insValThr
NM_001042723.2:c.6684_6689dup	NP_001036188.1:p.Thr2230_Ser2231insValThr