Canonical Allele Identifier: CA2584909156

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565521-CGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565537_38565632del , CM000681.2:g.38565537_38565632del	GRCh38
NC_000019.9:g.39056177_39056272del , CM000681.1:g.39056177_39056272del	GRCh37
NC_000019.8:g.43748017_43748112del	NCBI36
NG_008866.1:g.136838_136933del , LRG_766:g.136838_136933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.139_234del
ENST00000688602.1:c.1613_1708del
ENST00000689936.1:c.1595_1690del
ENST00000359596.8:c.13203_13298del MANE Select	ENSP00000352608.2:p.Asp4402_Gly4433del
ENST00000355481.8:c.13188_13283del	ENSP00000347667.3:p.Asp4397_Gly4428del
ENST00000359596.7:c.13203_13298del	ENSP00000352608.2:p.Asp4402_Gly4433del
ENST00000360985.7:c.13185_13280del	ENSP00000354254.4:p.Asp4396_Gly4427del
NM_000540.2:c.13203_13298del , LRG_766t1:c.13203_13298del	NP_000531.2:p.Asp4402_Gly4433del
NM_001042723.1:c.13188_13283del	NP_001036188.1:p.Asp4397_Gly4428del
XM_006723317.1:c.13185_13280del	XP_006723380.1:p.Asp4396_Gly4427del
XM_006723319.1:c.13170_13265del	XP_006723382.1:p.Asp4391_Gly4422del
XM_011527204.1:c.13200_13295del	XP_011525506.1:p.Asp4401_Gly4432del
XM_011527205.1:c.13203_13298del	XP_011525507.1:p.Asp4402_Gly4433del
XM_006723317.2:c.13185_13280del	XP_006723380.1:p.Asp4396_Gly4427del
XM_006723319.2:c.13170_13265del	XP_006723382.1:p.Asp4391_Gly4422del
XM_011527205.2:c.13203_13298del	XP_011525507.1:p.Asp4402_Gly4433del
NM_000540.3:c.13203_13298del MANE Select	NP_000531.2:p.Asp4402_Gly4433del
NM_001042723.2:c.13188_13283del	NP_001036188.1:p.Asp4397_Gly4428del