Canonical Allele Identifier: CA2584903258

Gene: RYR1

Linked Data

• gnomAD v4: 19-38512066-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512068_38512069del , CM000681.2:g.38512068_38512069del	GRCh38
NC_000019.9:g.39002708_39002709del , CM000681.1:g.39002708_39002709del	GRCh37
NC_000019.8:g.43694548_43694549del	NCBI36
NG_008866.1:g.83369_83370del , LRG_766:g.83369_83370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9173-177_9173-176del	ENSP00000471601.2:n.9173-177_9173-176del
ENST00000359596.8:c.9173-4_9173-3del MANE Select	ENSP00000352608.2:n.9173-4_9173-3del
ENST00000355481.8:c.9173-4_9173-3del	ENSP00000347667.3:n.9173-4_9173-3del
ENST00000359596.7:c.9173-4_9173-3del	ENSP00000352608.2:n.9173-4_9173-3del
ENST00000360985.7:c.9170-4_9170-3del	ENSP00000354254.4:n.9170-4_9170-3del
ENST00000594335.5:c.2575-4_2575-3del
ENST00000599547.5:c.41-177_41-176del
NM_000540.2:c.9173-4_9173-3del , LRG_766t1:c.9173-4_9173-3del	NP_000531.2:n.9173-4_9173-3del
NM_001042723.1:c.9173-4_9173-3del	NP_001036188.1:n.9173-4_9173-3del
XM_006723317.1:c.9173-4_9173-3del	XP_006723380.1:n.9173-4_9173-3del
XM_006723319.1:c.9173-4_9173-3del	XP_006723382.1:n.9173-4_9173-3del
XM_011527204.1:c.9170-4_9170-3del	XP_011525506.1:n.9170-4_9170-3del
XM_011527205.1:c.9173-4_9173-3del	XP_011525507.1:n.9173-4_9173-3del
XM_006723317.2:c.9173-4_9173-3del	XP_006723380.1:n.9173-4_9173-3del
XM_006723319.2:c.9173-4_9173-3del	XP_006723382.1:n.9173-4_9173-3del
XM_011527205.2:c.9173-4_9173-3del	XP_011525507.1:n.9173-4_9173-3del
XR_001753735.1:n.9206-4_9206-3del
NM_000540.3:c.9173-4_9173-3del MANE Select	NP_000531.2:n.9173-4_9173-3del
NM_001042723.2:c.9173-4_9173-3del	NP_001036188.1:n.9173-4_9173-3del