Canonical Allele Identifier: CA2565678219

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502516del , CM000681.2:g.38502516del	GRCh38
NC_000019.9:g.38993156del , CM000681.1:g.38993156del	GRCh37
NC_000019.8:g.43684996del	NCBI36
NG_008866.1:g.73817del , LRG_766:g.73817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7624del	ENSP00000471601.2:p.Ser2542AlafsTer9
ENST00000359596.8:c.7624del MANE Select	ENSP00000352608.2:p.Ser2542AlafsTer9
ENST00000355481.8:c.7624del	ENSP00000347667.3:p.Ser2542AlafsTer9
ENST00000359596.7:c.7624del	ENSP00000352608.2:p.Ser2542AlafsTer9
ENST00000360985.7:c.7621del	ENSP00000354254.4:p.Ser2541AlafsTer9
ENST00000594335.5:c.1076del
NM_000540.2:c.7624del , LRG_766t1:c.7624del	NP_000531.2:p.Ser2542AlafsTer9
NM_001042723.1:c.7624del	NP_001036188.1:p.Ser2542AlafsTer9
XM_006723317.1:c.7624del	XP_006723380.1:p.Ser2542AlafsTer9
XM_006723319.1:c.7624del	XP_006723382.1:p.Ser2542AlafsTer9
XM_011527204.1:c.7621del	XP_011525506.1:p.Ser2541AlafsTer9
XM_011527205.1:c.7624del	XP_011525507.1:p.Ser2542AlafsTer9
XM_006723317.2:c.7624del	XP_006723380.1:p.Ser2542AlafsTer9
XM_006723319.2:c.7624del	XP_006723382.1:p.Ser2542AlafsTer9
XM_011527205.2:c.7624del	XP_011525507.1:p.Ser2542AlafsTer9
XR_001753735.1:n.7707del
NM_000540.3:c.7624del MANE Select	NP_000531.2:p.Ser2542AlafsTer9
NM_001042723.2:c.7624del	NP_001036188.1:p.Ser2542AlafsTer9