Canonical Allele Identifier: CA2584894477

Gene: RYR1

Linked Data

• gnomAD v4: 19-38457943-ATCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457953_38457956del , CM000681.2:g.38457953_38457956del	GRCh38
NC_000019.9:g.38948593_38948596del , CM000681.1:g.38948593_38948596del	GRCh37
NC_000019.8:g.43640433_43640436del	NCBI36
NG_008866.1:g.29254_29257del , LRG_766:g.29254_29257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1926-98_1926-95del	ENSP00000471601.2:n.1926-98_1926-95del
ENST00000359596.8:c.1926-98_1926-95del MANE Select	ENSP00000352608.2:n.1926-98_1926-95del
ENST00000355481.8:c.1926-98_1926-95del	ENSP00000347667.3:n.1926-98_1926-95del
ENST00000359596.7:c.1926-98_1926-95del	ENSP00000352608.2:n.1926-98_1926-95del
ENST00000360985.7:c.1926-98_1926-95del	ENSP00000354254.4:n.1926-98_1926-95del
NM_000540.2:c.1926-98_1926-95del , LRG_766t1:c.1926-98_1926-95del	NP_000531.2:n.1926-98_1926-95del
NM_001042723.1:c.1926-98_1926-95del	NP_001036188.1:n.1926-98_1926-95del
XM_006723317.1:c.1926-98_1926-95del	XP_006723380.1:n.1926-98_1926-95del
XM_006723319.1:c.1926-98_1926-95del	XP_006723382.1:n.1926-98_1926-95del
XM_011527204.1:c.1923-98_1923-95del	XP_011525506.1:n.1923-98_1923-95del
XM_011527205.1:c.1926-98_1926-95del	XP_011525507.1:n.1926-98_1926-95del
XM_006723317.2:c.1926-98_1926-95del	XP_006723380.1:n.1926-98_1926-95del
XM_006723319.2:c.1926-98_1926-95del	XP_006723382.1:n.1926-98_1926-95del
XM_011527205.2:c.1926-98_1926-95del	XP_011525507.1:n.1926-98_1926-95del
XR_001753735.1:n.2009-98_2009-95del
NM_000540.3:c.1926-98_1926-95del MANE Select	NP_000531.2:n.1926-98_1926-95del
NM_001042723.2:c.1926-98_1926-95del	NP_001036188.1:n.1926-98_1926-95del