Canonical Allele Identifier: CA2584900040

Gene: RYR1

Linked Data

• gnomAD v4: 19-38499767-CCGAGGACCCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499773_38499783del , CM000681.2:g.38499773_38499783del	GRCh38
NC_000019.9:g.38990413_38990423del , CM000681.1:g.38990413_38990423del	GRCh37
NC_000019.8:g.43682253_43682263del	NCBI36
NG_008866.1:g.71074_71084del , LRG_766:g.71074_71084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7166_7176del	ENSP00000471601.2:p.Asp2389GlyfsTer16
ENST00000359596.8:c.7166_7176del MANE Select	ENSP00000352608.2:p.Asp2389GlyfsTer16
ENST00000355481.8:c.7166_7176del	ENSP00000347667.3:p.Asp2389GlyfsTer16
ENST00000359596.7:c.7166_7176del	ENSP00000352608.2:p.Asp2389GlyfsTer16
ENST00000360985.7:c.7163_7173del	ENSP00000354254.4:p.Asp2388GlyfsTer16
ENST00000594335.5:c.618_628del
NM_000540.2:c.7166_7176del , LRG_766t1:c.7166_7176del	NP_000531.2:p.Asp2389GlyfsTer16
NM_001042723.1:c.7166_7176del	NP_001036188.1:p.Asp2389GlyfsTer16
XM_006723317.1:c.7166_7176del	XP_006723380.1:p.Asp2389GlyfsTer16
XM_006723319.1:c.7166_7176del	XP_006723382.1:p.Asp2389GlyfsTer16
XM_011527204.1:c.7163_7173del	XP_011525506.1:p.Asp2388GlyfsTer16
XM_011527205.1:c.7166_7176del	XP_011525507.1:p.Asp2389GlyfsTer16
XM_006723317.2:c.7166_7176del	XP_006723380.1:p.Asp2389GlyfsTer16
XM_006723319.2:c.7166_7176del	XP_006723382.1:p.Asp2389GlyfsTer16
XM_011527205.2:c.7166_7176del	XP_011525507.1:p.Asp2389GlyfsTer16
XR_001753735.1:n.7249_7259del
NM_000540.3:c.7166_7176del MANE Select	NP_000531.2:p.Asp2389GlyfsTer16
NM_001042723.2:c.7166_7176del	NP_001036188.1:p.Asp2389GlyfsTer16