Canonical Allele Identifier: CA2584909146

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565382-GCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565392_38565431del , CM000681.2:g.38565392_38565431del	GRCh38
NC_000019.9:g.39056032_39056071del , CM000681.1:g.39056032_39056071del	GRCh37
NC_000019.8:g.43747872_43747911del	NCBI36
NG_008866.1:g.136693_136732del , LRG_766:g.136693_136732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1468_1507del
ENST00000689936.1:c.1450_1489del
ENST00000359596.8:c.13058_13097del MANE Select	ENSP00000352608.2:p.Gly4353AlafsTer9
ENST00000355481.8:c.13043_13082del	ENSP00000347667.3:p.Gly4348AlafsTer9
ENST00000359596.7:c.13058_13097del	ENSP00000352608.2:p.Gly4353AlafsTer9
ENST00000360985.7:c.13040_13079del	ENSP00000354254.4:p.Gly4347AlafsTer9
NM_000540.2:c.13058_13097del , LRG_766t1:c.13058_13097del	NP_000531.2:p.Gly4353AlafsTer9
NM_001042723.1:c.13043_13082del	NP_001036188.1:p.Gly4348AlafsTer9
XM_006723317.1:c.13040_13079del	XP_006723380.1:p.Gly4347AlafsTer9
XM_006723319.1:c.13025_13064del	XP_006723382.1:p.Gly4342AlafsTer9
XM_011527204.1:c.13055_13094del	XP_011525506.1:p.Gly4352AlafsTer9
XM_011527205.1:c.13058_13097del	XP_011525507.1:p.Gly4353AlafsTer9
XM_006723317.2:c.13040_13079del	XP_006723380.1:p.Gly4347AlafsTer9
XM_006723319.2:c.13025_13064del	XP_006723382.1:p.Gly4342AlafsTer9
XM_011527205.2:c.13058_13097del	XP_011525507.1:p.Gly4353AlafsTer9
NM_000540.3:c.13058_13097del MANE Select	NP_000531.2:p.Gly4353AlafsTer9
NM_001042723.2:c.13043_13082del	NP_001036188.1:p.Gly4348AlafsTer9