Canonical Allele Identifier: CA2814347235

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517575_38517576insAAA , CM000681.2:g.38517575_38517576insAAA	GRCh38
NC_000019.9:g.39008215_39008216insAAA , CM000681.1:g.39008215_39008216insAAA	GRCh37
NC_000019.8:g.43700055_43700056insAAA	NCBI36
NG_008866.1:g.88876_88877insAAA , LRG_766:g.88876_88877insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9841_9842insAAA	ENSP00000471601.2:n.9841_9842insAAA
ENST00000359596.8:c.9902_9903insAAA MANE Select	ENSP00000352608.2:p.Pro3301_Pro3302insAsn
ENST00000355481.8:c.9902_9903insAAA	ENSP00000347667.3:p.Pro3301_Pro3302insAsn
ENST00000359596.7:c.9902_9903insAAA	ENSP00000352608.2:p.Pro3301_Pro3302insAsn
ENST00000360985.7:c.9899_9900insAAA	ENSP00000354254.4:p.Pro3300_Pro3301insAsn
ENST00000594335.5:c.3304_3305insAAA
ENST00000599547.5:c.709_710insAAA
NM_000540.2:c.9902_9903insAAA , LRG_766t1:c.9902_9903insAAA	NP_000531.2:p.Pro3301_Pro3302insAsn
NM_001042723.1:c.9902_9903insAAA	NP_001036188.1:p.Pro3301_Pro3302insAsn
XM_006723317.1:c.9902_9903insAAA	XP_006723380.1:p.Pro3301_Pro3302insAsn
XM_006723319.1:c.9902_9903insAAA	XP_006723382.1:p.Pro3301_Pro3302insAsn
XM_011527204.1:c.9899_9900insAAA	XP_011525506.1:p.Pro3300_Pro3301insAsn
XM_011527205.1:c.9902_9903insAAA	XP_011525507.1:p.Pro3301_Pro3302insAsn
XM_006723317.2:c.9902_9903insAAA	XP_006723380.1:p.Pro3301_Pro3302insAsn
XM_006723319.2:c.9902_9903insAAA	XP_006723382.1:p.Pro3301_Pro3302insAsn
XM_011527205.2:c.9902_9903insAAA	XP_011525507.1:p.Pro3301_Pro3302insAsn
NM_000540.3:c.9902_9903insAAA MANE Select	NP_000531.2:p.Pro3301_Pro3302insAsn
NM_001042723.2:c.9902_9903insAAA	NP_001036188.1:p.Pro3301_Pro3302insAsn