Canonical Allele Identifier: CA080329

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38535992del , CM000681.2:g.38535992del	GRCh38
NC_000019.9:g.39026632del , CM000681.1:g.39026632del	GRCh37
NC_000019.8:g.43718472del	NCBI36
NG_008866.1:g.107293del , LRG_766:g.107293del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359596.8:c.11517-5del MANE Select	ENSP00000352608.2:n.11517-5del
ENST00000355481.8:c.11502-5del	ENSP00000347667.3:n.11502-5del
ENST00000359596.7:c.11517-5del	ENSP00000352608.2:n.11517-5del
ENST00000360985.7:c.11499-5del	ENSP00000354254.4:n.11499-5del
ENST00000593322.1:c.217+600del
ENST00000594335.5:c.4904-5del
ENST00000596431.5:c.246-5del	ENSP00000470848.1:n.246-5del
ENST00000601514.5:c.798-5del	ENSP00000472497.1:n.798-5del
NM_000540.2:c.11517-5del , LRG_766t1:c.11517-5del	NP_000531.2:n.11517-5del
NM_001042723.1:c.11502-5del	NP_001036188.1:n.11502-5del
XM_006723317.1:c.11517-5del	XP_006723380.1:n.11517-5del
XM_006723319.1:c.11502-5del	XP_006723382.1:n.11502-5del
XM_011527204.1:c.11514-5del	XP_011525506.1:n.11514-5del
XM_011527205.1:c.11517-5del	XP_011525507.1:n.11517-5del
XM_006723317.2:c.11517-5del	XP_006723380.1:n.11517-5del
XM_006723319.2:c.11502-5del	XP_006723382.1:n.11502-5del
XM_011527205.2:c.11517-5del	XP_011525507.1:n.11517-5del
NM_000540.3:c.11517-5del MANE Select	NP_000531.2:n.11517-5del
NM_001042723.2:c.11502-5del	NP_001036188.1:n.11502-5del