Canonical Allele Identifier: CA2576772104

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565381-G-GGCGGCGGCGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565385_38565396dup , CM000681.2:g.38565385_38565396dup	GRCh38
NC_000019.9:g.39056025_39056036dup , CM000681.1:g.39056025_39056036dup	GRCh37
NC_000019.8:g.43747865_43747876dup	NCBI36
NG_008866.1:g.136686_136697dup , LRG_766:g.136686_136697dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1461_1472dup
ENST00000689936.1:c.1443_1454dup
ENST00000359596.8:c.13051_13062dup MANE Select	ENSP00000352608.2:p.Ala4354_Leu4355insAlaAlaGlyAla
ENST00000355481.8:c.13036_13047dup	ENSP00000347667.3:p.Ala4349_Leu4350insAlaAlaGlyAla
ENST00000359596.7:c.13051_13062dup	ENSP00000352608.2:p.Ala4354_Leu4355insAlaAlaGlyAla
ENST00000360985.7:c.13033_13044dup	ENSP00000354254.4:p.Ala4348_Leu4349insAlaAlaGlyAla
NM_000540.2:c.13051_13062dup , LRG_766t1:c.13051_13062dup	NP_000531.2:p.Ala4354_Leu4355insAlaAlaGlyAla
NM_001042723.1:c.13036_13047dup	NP_001036188.1:p.Ala4349_Leu4350insAlaAlaGlyAla
XM_006723317.1:c.13033_13044dup	XP_006723380.1:p.Ala4348_Leu4349insAlaAlaGlyAla
XM_006723319.1:c.13018_13029dup	XP_006723382.1:p.Ala4343_Leu4344insAlaAlaGlyAla
XM_011527204.1:c.13048_13059dup	XP_011525506.1:p.Ala4353_Leu4354insAlaAlaGlyAla
XM_011527205.1:c.13051_13062dup	XP_011525507.1:p.Ala4354_Leu4355insAlaAlaGlyAla
XM_006723317.2:c.13033_13044dup	XP_006723380.1:p.Ala4348_Leu4349insAlaAlaGlyAla
XM_006723319.2:c.13018_13029dup	XP_006723382.1:p.Ala4343_Leu4344insAlaAlaGlyAla
XM_011527205.2:c.13051_13062dup	XP_011525507.1:p.Ala4354_Leu4355insAlaAlaGlyAla
NM_000540.3:c.13051_13062dup MANE Select	NP_000531.2:p.Ala4354_Leu4355insAlaAlaGlyAla
NM_001042723.2:c.13036_13047dup	NP_001036188.1:p.Ala4349_Leu4350insAlaAlaGlyAla