Canonical Allele Identifier: CA2584900392

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502399-G-GGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502400_38502401insCAG , CM000681.2:g.38502400_38502401insCAG	GRCh38
NC_000019.9:g.38993040_38993041insCAG , CM000681.1:g.38993040_38993041insCAG	GRCh37
NC_000019.8:g.43684880_43684881insCAG	NCBI36
NG_008866.1:g.73701_73702insCAG , LRG_766:g.73701_73702insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7615-107_7615-106insCAG	ENSP00000471601.2:n.7615-107_7615-106insCAG
ENST00000359596.8:c.7615-107_7615-106insCAG MANE Select	ENSP00000352608.2:n.7615-107_7615-106insCAG
ENST00000355481.8:c.7615-107_7615-106insCAG	ENSP00000347667.3:n.7615-107_7615-106insCAG
ENST00000359596.7:c.7615-107_7615-106insCAG	ENSP00000352608.2:n.7615-107_7615-106insCAG
ENST00000360985.7:c.7612-107_7612-106insCAG	ENSP00000354254.4:n.7612-107_7612-106insCAG
ENST00000594335.5:c.1067-107_1067-106insCAG
NM_000540.2:c.7615-107_7615-106insCAG , LRG_766t1:c.7615-107_7615-106insCAG	NP_000531.2:n.7615-107_7615-106insCAG
NM_001042723.1:c.7615-107_7615-106insCAG	NP_001036188.1:n.7615-107_7615-106insCAG
XM_006723317.1:c.7615-107_7615-106insCAG	XP_006723380.1:n.7615-107_7615-106insCAG
XM_006723319.1:c.7615-107_7615-106insCAG	XP_006723382.1:n.7615-107_7615-106insCAG
XM_011527204.1:c.7612-107_7612-106insCAG	XP_011525506.1:n.7612-107_7612-106insCAG
XM_011527205.1:c.7615-107_7615-106insCAG	XP_011525507.1:n.7615-107_7615-106insCAG
XM_006723317.2:c.7615-107_7615-106insCAG	XP_006723380.1:n.7615-107_7615-106insCAG
XM_006723319.2:c.7615-107_7615-106insCAG	XP_006723382.1:n.7615-107_7615-106insCAG
XM_011527205.2:c.7615-107_7615-106insCAG	XP_011525507.1:n.7615-107_7615-106insCAG
XR_001753735.1:n.7698-107_7698-106insCAG
NM_000540.3:c.7615-107_7615-106insCAG MANE Select	NP_000531.2:n.7615-107_7615-106insCAG
NM_001042723.2:c.7615-107_7615-106insCAG	NP_001036188.1:n.7615-107_7615-106insCAG