Canonical Allele Identifier: CA2335095583

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586164_38586167delinsTGGA , CM000681.2:g.38586164_38586167delinsTGGA	GRCh38
NC_000019.9:g.39076804_39076807delinsTGGA , CM000681.1:g.39076804_39076807delinsTGGA	GRCh37
NC_000019.8:g.43768644_43768647delinsTGGA	NCBI36
NG_008866.1:g.157465_157468delinsTGGA , LRG_766:g.157465_157468delinsTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1878_1881delinsTGGA
ENST00000688602.1:c.3275_3278delinsTGGA
ENST00000689936.1:c.3247_3250delinsTGGA
ENST00000692547.1:n.335_338delinsTGGA
ENST00000359596.8:c.14942_14945delinsTGGA MANE Select	ENSP00000352608.2:p.Leu4981=
ENST00000355481.8:c.14927_14930delinsTGGA	ENSP00000347667.3:p.Leu4976=
ENST00000359596.7:c.14942_14945delinsTGGA	ENSP00000352608.2:p.Leu4981=
ENST00000360985.7:c.14924_14927delinsTGGA	ENSP00000354254.4:p.Leu4975=
NM_000540.2:c.14942_14945delinsTGGA , LRG_766t1:c.14942_14945delinsTGGA	NP_000531.2:p.Leu4981=
NM_001042723.1:c.14927_14930delinsTGGA	NP_001036188.1:p.Leu4976=
XM_006723317.1:c.14924_14927delinsTGGA	XP_006723380.1:p.Leu4975=
XM_006723319.1:c.14909_14912delinsTGGA	XP_006723382.1:p.Leu4970=
XM_011527204.1:c.14939_14942delinsTGGA	XP_011525506.1:p.Leu4980=
XM_011527205.1:c.14855_14858delinsTGGA	XP_011525507.1:p.Leu4952=
XM_006723317.2:c.14924_14927delinsTGGA	XP_006723380.1:p.Leu4975=
XM_006723319.2:c.14909_14912delinsTGGA	XP_006723382.1:p.Leu4970=
XM_011527205.2:c.14855_14858delinsTGGA	XP_011525507.1:p.Leu4952=
NM_000540.3:c.14942_14945delinsTGGA MANE Select	NP_000531.2:p.Leu4981=
NM_001042723.2:c.14927_14930delinsTGGA	NP_001036188.1:p.Leu4976=