Canonical Allele Identifier: CA2335092486

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580446_38580449delinsTCTA , CM000681.2:g.38580446_38580449delinsTCTA	GRCh38
NC_000019.9:g.39071086_39071089delinsTCTA , CM000681.1:g.39071086_39071089delinsTCTA	GRCh37
NC_000019.8:g.43762926_43762929delinsTCTA	NCBI36
NG_008866.1:g.151747_151750delinsTCTA , LRG_766:g.151747_151750delinsTCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1524_1527delinsTCTA
ENST00000688602.1:c.2921_2924delinsTCTA
ENST00000689936.1:c.2893_2896delinsTCTA
ENST00000359596.8:c.14588_14591delinsTCTA MANE Select	ENSP00000352608.2:p.Phe4863=
ENST00000355481.8:c.14573_14576delinsTCTA	ENSP00000347667.3:p.Phe4858=
ENST00000359596.7:c.14588_14591delinsTCTA	ENSP00000352608.2:p.Phe4863=
ENST00000360985.7:c.14570_14573delinsTCTA	ENSP00000354254.4:p.Phe4857=
NM_000540.2:c.14588_14591delinsTCTA , LRG_766t1:c.14588_14591delinsTCTA	NP_000531.2:p.Phe4863=
NM_001042723.1:c.14573_14576delinsTCTA	NP_001036188.1:p.Phe4858=
XM_006723317.1:c.14570_14573delinsTCTA	XP_006723380.1:p.Phe4857=
XM_006723319.1:c.14555_14558delinsTCTA	XP_006723382.1:p.Phe4852=
XM_011527204.1:c.14585_14588delinsTCTA	XP_011525506.1:p.Phe4862=
XM_011527205.1:c.14501_14504delinsTCTA	XP_011525507.1:p.Phe4834=
XM_006723317.2:c.14570_14573delinsTCTA	XP_006723380.1:p.Phe4857=
XM_006723319.2:c.14555_14558delinsTCTA	XP_006723382.1:p.Phe4852=
XM_011527205.2:c.14501_14504delinsTCTA	XP_011525507.1:p.Phe4834=
NM_000540.3:c.14588_14591delinsTCTA MANE Select	NP_000531.2:p.Phe4863=
NM_001042723.2:c.14573_14576delinsTCTA	NP_001036188.1:p.Phe4858=