Canonical Allele Identifier: CA2580098641
Community Standard Title: NM_001320714.2(DOP1B):c.1227_1228del (p.Gln410GlufsTer17)
Gene: DOP1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36219469_36219470del , CM000683.2:g.36219469_36219470del GRCh38
NC_000021.8:g.37591767_37591768del , CM000683.1:g.37591767_37591768del GRCh37
NC_000021.7:g.36513637_36513638del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001320714.2:c.1227_1228del MANE Select NP_001307643.1:p.Gln410GlufsTer17
ENST00000691173.1:c.1227_1228del MANE Select ENSP00000509598.1:p.Gln410GlufsTer17
NM_001320714.1:c.1227_1228del NP_001307643.1:p.Gln410GlufsTer17
NM_005128.3:c.1227_1228del NP_005119.2:p.Gln410GlufsTer17
NM_005128.4:c.1227_1228del NP_005119.2:p.Gln410GlufsTer17
ENST00000399151.3:c.1227_1228del ENSP00000382104.3:p.Gln410GlufsTer17
ENST00000685394.1:c.1227_1228del ENSP00000510500.1:p.Gln410GlufsTer17
ENST00000693273.1:c.*202_*203del ENSP00000510799.1:n.*202_*203del
XM_006724068.1:c.1227_1228del XP_006724131.1:p.Gln410GlufsTer17
XM_017028509.1:c.573_574del XP_016883998.1:p.Gln192GlufsTer17
XR_001754923.2:n.1416_1417del
XR_937581.1:n.1412_1413del
XR_937581.3:n.1415_1416del
XR_937582.1:n.1414_1415del