Canonical Allele Identifier: CA2584903246

Gene: RYR1

Linked Data

• gnomAD v4: 19-38512053-GCCCATCTTCCTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512058_38512070del , CM000681.2:g.38512058_38512070del	GRCh38
NC_000019.9:g.39002698_39002710del , CM000681.1:g.39002698_39002710del	GRCh37
NC_000019.8:g.43694538_43694550del	NCBI36
NG_008866.1:g.83359_83371del , LRG_766:g.83359_83371del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9173-187_9173-175del	ENSP00000471601.2:n.9173-187_9173-175del
ENST00000359596.8:c.9173-14_9173-2del MANE Select	ENSP00000352608.2:n.9173-14_9173-2del
ENST00000355481.8:c.9173-14_9173-2del	ENSP00000347667.3:n.9173-14_9173-2del
ENST00000359596.7:c.9173-14_9173-2del	ENSP00000352608.2:n.9173-14_9173-2del
ENST00000360985.7:c.9170-14_9170-2del	ENSP00000354254.4:n.9170-14_9170-2del
ENST00000594335.5:c.2575-14_2575-2del
ENST00000599547.5:c.41-187_41-175del
NM_000540.2:c.9173-14_9173-2del , LRG_766t1:c.9173-14_9173-2del	NP_000531.2:n.9173-14_9173-2del
NM_001042723.1:c.9173-14_9173-2del	NP_001036188.1:n.9173-14_9173-2del
XM_006723317.1:c.9173-14_9173-2del	XP_006723380.1:n.9173-14_9173-2del
XM_006723319.1:c.9173-14_9173-2del	XP_006723382.1:n.9173-14_9173-2del
XM_011527204.1:c.9170-14_9170-2del	XP_011525506.1:n.9170-14_9170-2del
XM_011527205.1:c.9173-14_9173-2del	XP_011525507.1:n.9173-14_9173-2del
XM_006723317.2:c.9173-14_9173-2del	XP_006723380.1:n.9173-14_9173-2del
XM_006723319.2:c.9173-14_9173-2del	XP_006723382.1:n.9173-14_9173-2del
XM_011527205.2:c.9173-14_9173-2del	XP_011525507.1:n.9173-14_9173-2del
XR_001753735.1:n.9206-14_9206-2del
NM_000540.3:c.9173-14_9173-2del MANE Select	NP_000531.2:n.9173-14_9173-2del
NM_001042723.2:c.9173-14_9173-2del	NP_001036188.1:n.9173-14_9173-2del