Canonical Allele Identifier: CA918962119
Community Standard Title: NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro)
Gene: ALKBH8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.107510895_107510903del , CM000673.2:g.107510895_107510903del GRCh38
NC_000011.9:g.107381621_107381629del , CM000673.1:g.107381621_107381629del GRCh37
NC_000011.8:g.106886831_106886839del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_138775.3:c.1421_1429del MANE Select NP_620130.2:p.His474_Ala477delinsPro
ENST00000428149.7:c.1421_1429del MANE Select ENSP00000415885.2:p.His474_Ala477delinsPro
NM_001301010.1:c.1430_1438del NP_001287939.1:p.His477_Ala480delinsPro
NM_001301010.2:c.1430_1438del NP_001287939.1:p.His477_Ala480delinsPro
NM_001301010.3:c.1421_1429del NP_001287939.2:p.His474_Ala477delinsPro
NM_001378133.1:c.1288-5688_1288-5680del NP_001365062.1:n.1288-5688_1288-5680del
NM_138775.2:c.1421_1429del NP_620130.2:p.His474_Ala477delinsPro
NR_165421.1:n.1101-5688_1101-5680del
NR_165422.1:n.1457_1465del
NR_165423.1:n.1491_1499del
NR_165424.1:n.1353-5688_1353-5680del
NR_165425.1:n.1486_1494del
NR_165426.1:n.1495_1503del
ENST00000260318.6:c.*243-5688_*243-5680del ENSP00000260318.2:n.*243-5688_*243-5680del
ENST00000389568.7:c.1421_1429del ENSP00000374219.3:p.His474_Ala477delinsPro
ENST00000417449.6:c.1430_1438del ENSP00000397673.2:p.His477_Ala480delinsPro
ENST00000428149.6:c.1421_1429del ENSP00000415885.2:p.His474_Ala477delinsPro
ENST00000429370.5:c.644-6363_644-6355del ENSP00000391225.1:n.644-6363_644-6355del
XM_005271728.2:c.1010_1018del XP_005271785.1:p.His337_Ala340delinsPro
XM_005271729.2:c.1010_1018del XP_005271786.1:p.His337_Ala340delinsPro
XM_005271729.3:c.1010_1018del XP_005271786.1:p.His337_Ala340delinsPro
XM_005271730.2:c.665_673del XP_005271787.1:p.His222_Ala225delinsPro
XM_017018553.1:c.1297-5688_1297-5680del XP_016874042.1:n.1297-5688_1297-5680del
XM_017018554.2:c.1288-5688_1288-5680del XP_016874043.1:n.1288-5688_1288-5680del
XM_017018555.1:c.665_673del XP_016874044.1:p.His222_Ala225delinsPro
XM_017018556.1:c.532-5688_532-5680del XP_016874045.1:n.532-5688_532-5680del
XM_024448768.1:c.665_673del XP_024304536.1:p.His222_Ala225delinsPro
XR_001748035.1:n.1278_1286del