Canonical Allele Identifier: CA2695201249
Community Standard Title: NM_001321075.3(DLG4):c.129del (p.Asp43GlufsTer3)
Gene: DLG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7204220del , CM000679.2:g.7204220del GRCh38
NC_000017.10:g.7107539del , CM000679.1:g.7107539del GRCh37
NC_000017.9:g.7048263del NCBI36
NG_008391.2:g.20831del

Transcript Alleles

HGVS Amino-acid Change
NM_001321075.3:c.129del MANE Select NP_001308004.1:p.Asp43GlufsTer3
ENST00000399506.9:c.129del MANE Select ENSP00000382425.2:p.Asp43GlufsTer3
NM_001128827.1:c.129del NP_001122299.1:p.Asp43GlufsTer3
NM_001128827.2:c.129del NP_001122299.1:p.Asp43GlufsTer3
NM_001128827.3:c.129del NP_001122299.1:p.Asp43GlufsTer3
NM_001128827.4:c.129del NP_001122299.1:p.Asp43GlufsTer3
NM_001321074.1:c.258del NP_001308003.1:p.Asp86GlufsTer3
NM_001321075.1:c.129del NP_001308004.1:p.Asp43GlufsTer3
NM_001321076.1:c.-52del NP_001308005.1:n.-52del
NM_001321076.2:c.-52del NP_001308005.1:n.-52del
NM_001321076.3:c.-52del NP_001308005.1:n.-52del
NM_001321077.1:c.-43del NP_001308006.1:n.-43del
NM_001321077.2:c.-43del NP_001308006.1:n.-43del
NM_001321077.3:c.-43del NP_001308006.1:n.-43del
NM_001365.3:c.258del NP_001356.1:p.Asp86GlufsTer3
NM_001365.4:c.258del NP_001356.1:p.Asp86GlufsTer3
NM_001369566.2:c.57del NP_001356495.1:p.Asp19GlufsTer3
NM_001369566.3:c.57del NP_001356495.1:p.Asp19GlufsTer3
NR_135527.1:n.1459del
ENST00000302955.10:c.129del ENSP00000307471.6:p.Asp43GlufsTer3
ENST00000302955.11:c.129del ENSP00000307471.6:p.Asp43GlufsTer3
ENST00000399506.6:c.129del ENSP00000382425.2:p.Asp43GlufsTer3
ENST00000399510.6:c.258del ENSP00000382428.2:p.Asp86GlufsTer3
ENST00000399510.8:c.258del ENSP00000382428.3:p.Asp86GlufsTer3
ENST00000447163.5:c.228del ENSP00000388122.1:p.Asp76GlufsTer3
ENST00000447163.6:c.228del ENSP00000388122.2:p.Asp76GlufsTer3
ENST00000451807.6:c.228del ENSP00000407918.2:p.Asp76GlufsTer3
ENST00000451807.7:c.45del ENSP00000407918.3:p.Asp15GlufsTer3
ENST00000485100.5:c.129del ENSP00000460625.1:p.Asp43GlufsTer3
ENST00000486626.7:c.-52del ENSP00000465720.1:n.-52del
ENST00000486626.8:c.-43del ENSP00000465720.2:n.-43del
ENST00000491753.2:c.258del ENSP00000467897.2:p.Asp86GlufsTer3
ENST00000493294.1:c.-43del ENSP00000465789.1:n.-43del
ENST00000493294.2:c.45del ENSP00000465789.2:p.Asp15GlufsTer3
ENST00000647975.1:c.63del ENSP00000497912.1:p.Asp21GlufsTer3
ENST00000648103.2:n.398del
ENST00000648172.8:c.258del ENSP00000497806.3:p.Asp86GlufsTer3
ENST00000648263.1:c.-52del ENSP00000498035.1:n.-52del
ENST00000648658.1:c.141del ENSP00000496903.1:p.Asp47GlufsTer3
ENST00000648707.1:n.164del
ENST00000648760.1:c.-52del ENSP00000497462.1:n.-52del
ENST00000648896.1:c.228del ENSP00000497546.1:p.Asp76GlufsTer3
ENST00000649186.1:c.-43del ENSP00000497879.1:n.-43del
ENST00000649520.1:c.-52del ENSP00000497647.1:n.-52del
ENST00000649971.1:c.57del ENSP00000497011.1:p.Asp19GlufsTer3
ENST00000650120.1:c.-43del ENSP00000497553.1:n.-43del
ENST00000650301.1:c.57del ENSP00000497662.1:p.Asp19GlufsTer3
XM_005256489.2:c.258del XP_005256546.1:p.Asp86GlufsTer3
XM_005256491.1:c.228del XP_005256548.1:p.Asp76GlufsTer3
XM_005256492.1:c.129del XP_005256549.1:p.Asp43GlufsTer3
XM_005256493.3:c.-52del XP_005256550.1:n.-52del
XM_005256494.2:c.-43del XP_005256551.1:n.-43del
XM_011523698.1:c.357del XP_011522000.1:p.Asp119GlufsTer3
XM_011523699.1:c.357del XP_011522001.1:p.Asp119GlufsTer3
XM_011523699.2:c.357del XP_011522001.1:p.Asp119GlufsTer3
XM_011523700.1:c.141del XP_011522002.1:p.Asp47GlufsTer3
XM_011523701.1:c.240del XP_011522003.1:p.Asp80GlufsTer3
XM_011523702.1:c.-52del XP_011522004.1:n.-52del
XM_017024288.2:c.63del XP_016879777.1:p.Asp21GlufsTer3
XM_017024289.2:c.63del XP_016879778.1:p.Asp21GlufsTer3
XM_017024290.2:c.57del XP_016879779.1:p.Asp19GlufsTer3
XM_024450629.1:c.114del XP_024306397.1:p.Asp38GlufsTer3
XR_243545.2:n.1257del
XR_934005.1:n.1356del
XR_934005.2:n.1350del