Canonical Allele Identifier: CA2578985489
Gene: CDHR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.106017993del , CM000669.2:g.106017993del GRCh38
NC_000007.13:g.105658439del , CM000669.1:g.105658439del GRCh37
NC_000007.12:g.105445675del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317716.14:c.1574del MANE Select ENSP00000325954.9:p.Thr525IlefsTer30
ENST00000317716.13:c.1574del ENSP00000325954.9:p.Thr525IlefsTer30
ENST00000466045.1:c.700+1968del ENSP00000419017.1:n.700+1968del
ENST00000468477.1:c.60-2380del
ENST00000470188.5:n.1849+1968del
ENST00000478080.5:c.1310del ENSP00000417771.1:p.Thr437IlefsTer30
NM_001301161.1:c.1310del NP_001288090.1:p.Thr437IlefsTer30
NM_152750.4:c.1574del NP_689963.2:p.Thr525IlefsTer30
XM_005250224.3:c.1310del XP_005250281.1:p.Thr437IlefsTer30
XM_005250225.1:c.1574del XP_005250282.1:p.Thr525IlefsTer30
XM_005250226.1:c.518del XP_005250283.1:p.Thr173IlefsTer30
XM_006715905.1:c.1426+1968del XP_006715968.1:n.1426+1968del
XM_006715906.2:c.1028del XP_006715969.1:p.Thr343IlefsTer30
XM_011515955.1:c.1574del XP_011514257.1:p.Thr525IlefsTer30
XM_011515956.1:c.1028del XP_011514258.1:p.Thr343IlefsTer30
XM_011515957.1:c.1574del XP_011514259.1:p.Thr525IlefsTer30
XM_011515958.1:c.1426+1968del XP_011514260.1:n.1426+1968del
XM_011515959.1:c.518del XP_011514261.1:p.Thr173IlefsTer30
XR_927414.1:n.1650del
XM_005250224.5:c.1310del XP_005250281.1:p.Thr437IlefsTer30
XM_005250225.2:c.1574del XP_005250282.1:p.Thr525IlefsTer30
XM_006715905.2:c.1426+1968del XP_006715968.1:n.1426+1968del
XM_011515955.2:c.1574del XP_011514257.1:p.Thr525IlefsTer30
XM_011515956.2:c.1028del XP_011514258.1:p.Thr343IlefsTer30
XM_011515957.2:c.1574del XP_011514259.1:p.Thr525IlefsTer30
XM_011515958.2:c.1426+1968del XP_011514260.1:n.1426+1968del
XM_011515959.2:c.518del XP_011514261.1:p.Thr173IlefsTer30
XM_017011862.1:c.1574del XP_016867351.1:p.Thr525IlefsTer30
XM_017011863.2:c.1028del XP_016867352.1:p.Thr343IlefsTer30
XM_017011864.1:c.1028del XP_016867353.1:p.Thr343IlefsTer30
XM_017011865.2:c.1162+1968del XP_016867354.1:n.1162+1968del
XM_017011866.2:c.725del XP_016867355.1:p.Thr242IlefsTer30
XM_017011867.2:c.880+1968del XP_016867356.1:n.880+1968del
XM_024446689.1:c.518del XP_024302457.1:p.Thr173IlefsTer30
XM_024446690.1:c.577+1968del XP_024302458.1:n.577+1968del
XR_001744598.1:n.1650del
XR_001744600.2:n.1650del
XR_001744601.2:n.1650del
XR_001744602.1:n.1667del
XR_001744603.2:n.1667del
XR_001744604.2:n.1502+1968del
XR_001744605.2:n.1502+1968del
XR_001744606.2:n.1502+1968del
XR_001744607.2:n.1502+1968del
XR_927414.2:n.1650del
NM_152750.5:c.1574del MANE Select NP_689963.2:p.Thr525IlefsTer30
NM_001301161.2:c.1310del NP_001288090.1:p.Thr437IlefsTer30