Canonical Allele Identifier: CA2576772105

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565421_38565435del , CM000681.2:g.38565421_38565435del	GRCh38
NC_000019.9:g.39056061_39056075del , CM000681.1:g.39056061_39056075del	GRCh37
NC_000019.8:g.43747901_43747915del	NCBI36
NG_008866.1:g.136722_136736del , LRG_766:g.136722_136736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.23_37del
ENST00000688602.1:c.1497_1511del
ENST00000689936.1:c.1479_1493del
ENST00000359596.8:c.13087_13101del MANE Select	ENSP00000352608.2:p.Phe4363_Leu4367del
ENST00000355481.8:c.13072_13086del	ENSP00000347667.3:p.Phe4358_Leu4362del
ENST00000359596.7:c.13087_13101del	ENSP00000352608.2:p.Phe4363_Leu4367del
ENST00000360985.7:c.13069_13083del	ENSP00000354254.4:p.Phe4357_Leu4361del
NM_000540.2:c.13087_13101del , LRG_766t1:c.13087_13101del	NP_000531.2:p.Phe4363_Leu4367del
NM_001042723.1:c.13072_13086del	NP_001036188.1:p.Phe4358_Leu4362del
XM_006723317.1:c.13069_13083del	XP_006723380.1:p.Phe4357_Leu4361del
XM_006723319.1:c.13054_13068del	XP_006723382.1:p.Phe4352_Leu4356del
XM_011527204.1:c.13084_13098del	XP_011525506.1:p.Phe4362_Leu4366del
XM_011527205.1:c.13087_13101del	XP_011525507.1:p.Phe4363_Leu4367del
XM_006723317.2:c.13069_13083del	XP_006723380.1:p.Phe4357_Leu4361del
XM_006723319.2:c.13054_13068del	XP_006723382.1:p.Phe4352_Leu4356del
XM_011527205.2:c.13087_13101del	XP_011525507.1:p.Phe4363_Leu4367del
NM_000540.3:c.13087_13101del MANE Select	NP_000531.2:p.Phe4363_Leu4367del
NM_001042723.2:c.13072_13086del	NP_001036188.1:p.Phe4358_Leu4362del