Canonical Allele Identifier: CA2584909164

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565576-CGCCGCGGAGGGCGCTGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565578_38565595del , CM000681.2:g.38565578_38565595del	GRCh38
NC_000019.9:g.39056218_39056235del , CM000681.1:g.39056218_39056235del	GRCh37
NC_000019.8:g.43748058_43748075del	NCBI36
NG_008866.1:g.136879_136896del , LRG_766:g.136879_136896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.180_197del
ENST00000688602.1:c.1654_1671del
ENST00000689936.1:c.1636_1653del
ENST00000359596.8:c.13244_13261del MANE Select	ENSP00000352608.2:p.Ala4415_Gly4420del
ENST00000355481.8:c.13229_13246del	ENSP00000347667.3:p.Ala4410_Gly4415del
ENST00000359596.7:c.13244_13261del	ENSP00000352608.2:p.Ala4415_Gly4420del
ENST00000360985.7:c.13226_13243del	ENSP00000354254.4:p.Ala4409_Gly4414del
NM_000540.2:c.13244_13261del , LRG_766t1:c.13244_13261del	NP_000531.2:p.Ala4415_Gly4420del
NM_001042723.1:c.13229_13246del	NP_001036188.1:p.Ala4410_Gly4415del
XM_006723317.1:c.13226_13243del	XP_006723380.1:p.Ala4409_Gly4414del
XM_006723319.1:c.13211_13228del	XP_006723382.1:p.Ala4404_Gly4409del
XM_011527204.1:c.13241_13258del	XP_011525506.1:p.Ala4414_Gly4419del
XM_011527205.1:c.13244_13261del	XP_011525507.1:p.Ala4415_Gly4420del
XM_006723317.2:c.13226_13243del	XP_006723380.1:p.Ala4409_Gly4414del
XM_006723319.2:c.13211_13228del	XP_006723382.1:p.Ala4404_Gly4409del
XM_011527205.2:c.13244_13261del	XP_011525507.1:p.Ala4415_Gly4420del
NM_000540.3:c.13244_13261del MANE Select	NP_000531.2:p.Ala4415_Gly4420del
NM_001042723.2:c.13229_13246del	NP_001036188.1:p.Ala4410_Gly4415del