Canonical Allele Identifier: CA2584910098

Gene: RYR1

Linked Data

• gnomAD v4: 19-38572317-GGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572324_38572399del , CM000681.2:g.38572324_38572399del	GRCh38
NC_000019.9:g.39062964_39063039del , CM000681.1:g.39062964_39063039del	GRCh37
NC_000019.8:g.43754804_43754879del	NCBI36
NG_008866.1:g.143625_143700del , LRG_766:g.143625_143700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+54_934+129del
ENST00000688602.1:c.2331+54_2331+129del
ENST00000689936.1:c.2303+54_2303+129del
ENST00000359596.8:c.13998+54_13998+129del MANE Select	ENSP00000352608.2:n.13998+54_13998+129del
ENST00000355481.8:c.13983+54_13983+129del	ENSP00000347667.3:n.13983+54_13983+129del
ENST00000359596.7:c.13998+54_13998+129del	ENSP00000352608.2:n.13998+54_13998+129del
ENST00000360985.7:c.13980+54_13980+129del	ENSP00000354254.4:n.13980+54_13980+129del
NM_000540.2:c.13998+54_13998+129del , LRG_766t1:c.13998+54_13998+129del	NP_000531.2:n.13998+54_13998+129del
NM_001042723.1:c.13983+54_13983+129del	NP_001036188.1:n.13983+54_13983+129del
XM_006723317.1:c.13980+54_13980+129del	XP_006723380.1:n.13980+54_13980+129del
XM_006723319.1:c.13965+54_13965+129del	XP_006723382.1:n.13965+54_13965+129del
XM_011527204.1:c.13995+54_13995+129del	XP_011525506.1:n.13995+54_13995+129del
XM_011527205.1:c.13911+54_13911+129del	XP_011525507.1:n.13911+54_13911+129del
XM_006723317.2:c.13980+54_13980+129del	XP_006723380.1:n.13980+54_13980+129del
XM_006723319.2:c.13965+54_13965+129del	XP_006723382.1:n.13965+54_13965+129del
XM_011527205.2:c.13911+54_13911+129del	XP_011525507.1:n.13911+54_13911+129del
NM_000540.3:c.13998+54_13998+129del MANE Select	NP_000531.2:n.13998+54_13998+129del
NM_001042723.2:c.13983+54_13983+129del	NP_001036188.1:n.13983+54_13983+129del