Canonical Allele Identifier: CA082754
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502924_38502939delinsA , CM000681.2:g.38502924_38502939delinsA GRCh38
NC_000019.9:g.38993564_38993579delinsA , CM000681.1:g.38993564_38993579delinsA GRCh37
NC_000019.8:g.43685404_43685419delinsA NCBI36
NG_008866.1:g.74225_74240delinsA , LRG_766:g.74225_74240delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7880_7895delinsA ENSP00000471601.2:p.Val2627_Ile2632delinsAsp
ENST00000359596.8:c.7880_7895delinsA MANE Select ENSP00000352608.2:p.Val2627_Ile2632delinsAsp
ENST00000355481.8:c.7880_7895delinsA ENSP00000347667.3:p.Val2627_Ile2632delinsAsp
ENST00000359596.7:c.7880_7895delinsA ENSP00000352608.2:p.Val2627_Ile2632delinsAsp
ENST00000360985.7:c.7877_7892delinsA ENSP00000354254.4:p.Val2626_Ile2631delinsAsp
ENST00000594335.5:c.1332_1347delinsA
NM_000540.2:c.7880_7895delinsA , LRG_766t1:c.7880_7895delinsA NP_000531.2:p.Val2627_Ile2632delinsAsp
NM_001042723.1:c.7880_7895delinsA NP_001036188.1:p.Val2627_Ile2632delinsAsp
XM_006723317.1:c.7880_7895delinsA XP_006723380.1:p.Val2627_Ile2632delinsAsp
XM_006723319.1:c.7880_7895delinsA XP_006723382.1:p.Val2627_Ile2632delinsAsp
XM_011527204.1:c.7877_7892delinsA XP_011525506.1:p.Val2626_Ile2631delinsAsp
XM_011527205.1:c.7880_7895delinsA XP_011525507.1:p.Val2627_Ile2632delinsAsp
XM_006723317.2:c.7880_7895delinsA XP_006723380.1:p.Val2627_Ile2632delinsAsp
XM_006723319.2:c.7880_7895delinsA XP_006723382.1:p.Val2627_Ile2632delinsAsp
XM_011527205.2:c.7880_7895delinsA XP_011525507.1:p.Val2627_Ile2632delinsAsp
XR_001753735.1:n.7963_7978delinsA
NM_000540.3:c.7880_7895delinsA MANE Select NP_000531.2:p.Val2627_Ile2632delinsAsp
NM_001042723.2:c.7880_7895delinsA NP_001036188.1:p.Val2627_Ile2632delinsAsp
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