Canonical Allele Identifier: CA2335092473

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580431_38580434delinsACTT , CM000681.2:g.38580431_38580434delinsACTT	GRCh38
NC_000019.9:g.39071071_39071074delinsACTT , CM000681.1:g.39071071_39071074delinsACTT	GRCh37
NC_000019.8:g.43762911_43762914delinsACTT	NCBI36
NG_008866.1:g.151732_151735delinsACTT , LRG_766:g.151732_151735delinsACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1509_1512delinsACTT
ENST00000688602.1:c.2906_2909delinsACTT
ENST00000689936.1:c.2878_2881delinsACTT
ENST00000359596.8:c.14573_14576delinsACTT MANE Select	ENSP00000352608.2:p.Asn4858=
ENST00000355481.8:c.14558_14561delinsACTT	ENSP00000347667.3:p.Asn4853=
ENST00000359596.7:c.14573_14576delinsACTT	ENSP00000352608.2:p.Asn4858=
ENST00000360985.7:c.14555_14558delinsACTT	ENSP00000354254.4:p.Asn4852=
NM_000540.2:c.14573_14576delinsACTT , LRG_766t1:c.14573_14576delinsACTT	NP_000531.2:p.Asn4858=
NM_001042723.1:c.14558_14561delinsACTT	NP_001036188.1:p.Asn4853=
XM_006723317.1:c.14555_14558delinsACTT	XP_006723380.1:p.Asn4852=
XM_006723319.1:c.14540_14543delinsACTT	XP_006723382.1:p.Asn4847=
XM_011527204.1:c.14570_14573delinsACTT	XP_011525506.1:p.Asn4857=
XM_011527205.1:c.14486_14489delinsACTT	XP_011525507.1:p.Asn4829=
XM_006723317.2:c.14555_14558delinsACTT	XP_006723380.1:p.Asn4852=
XM_006723319.2:c.14540_14543delinsACTT	XP_006723382.1:p.Asn4847=
XM_011527205.2:c.14486_14489delinsACTT	XP_011525507.1:p.Asn4829=
NM_000540.3:c.14573_14576delinsACTT MANE Select	NP_000531.2:p.Asn4858=
NM_001042723.2:c.14558_14561delinsACTT	NP_001036188.1:p.Asn4853=