Canonical Allele Identifier: CA2580094744
Community Standard Title: NM_001321075.3(DLG4):c.773del (p.Pro258GlnfsTer29)
Gene: DLG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7202921del , CM000679.2:g.7202921del GRCh38
NC_000017.10:g.7106240del , CM000679.1:g.7106240del GRCh37
NC_000017.9:g.7046964del NCBI36
NG_008391.2:g.22134del

Transcript Alleles

HGVS Amino-acid Change
NM_001321075.3:c.773del MANE Select NP_001308004.1:p.Pro258GlnfsTer29
ENST00000399506.9:c.773del MANE Select ENSP00000382425.2:p.Pro258GlnfsTer29
NM_001128827.1:c.764del NP_001122299.1:p.Pro255GlnfsTer29
NM_001128827.2:c.764del NP_001122299.1:p.Pro255GlnfsTer29
NM_001128827.3:c.764del NP_001122299.1:p.Pro255GlnfsTer29
NM_001128827.4:c.764del NP_001122299.1:p.Pro255GlnfsTer29
NM_001321074.1:c.893del NP_001308003.1:p.Pro298GlnfsTer29
NM_001321075.1:c.773del NP_001308004.1:p.Pro258GlnfsTer29
NM_001321076.1:c.593del NP_001308005.1:p.Pro198GlnfsTer29
NM_001321076.2:c.593del NP_001308005.1:p.Pro198GlnfsTer29
NM_001321076.3:c.593del NP_001308005.1:p.Pro198GlnfsTer29
NM_001321077.1:c.593del NP_001308006.1:p.Pro198GlnfsTer29
NM_001321077.2:c.593del NP_001308006.1:p.Pro198GlnfsTer29
NM_001321077.3:c.593del NP_001308006.1:p.Pro198GlnfsTer29
NM_001365.3:c.902del NP_001356.1:p.Pro301GlnfsTer29
NM_001365.4:c.902del NP_001356.1:p.Pro301GlnfsTer29
NM_001369566.2:c.692del NP_001356495.1:p.Pro231GlnfsTer29
NM_001369566.3:c.692del NP_001356495.1:p.Pro231GlnfsTer29
NR_135527.1:n.2103del
ENST00000302955.10:c.764del ENSP00000307471.6:p.Pro255GlnfsTer29
ENST00000302955.11:c.764del ENSP00000307471.6:p.Pro255GlnfsTer29
ENST00000399506.6:c.773del ENSP00000382425.2:p.Pro258GlnfsTer29
ENST00000399510.6:c.902del ENSP00000382428.2:p.Pro301GlnfsTer29
ENST00000399510.8:c.893del ENSP00000382428.3:p.Pro298GlnfsTer29
ENST00000451807.7:c.689del ENSP00000407918.3:p.Pro230GlnfsTer?
ENST00000485100.5:c.764del ENSP00000460625.1:p.Pro255GlnfsTer21
ENST00000486626.8:c.593del ENSP00000465720.2:p.Pro198=
ENST00000491753.2:c.902del ENSP00000467897.2:p.Pro301GlnfsTer29
ENST00000647975.1:c.707del ENSP00000497912.1:p.Pro236GlnfsTer21
ENST00000648103.2:n.1033del
ENST00000648172.8:c.902del ENSP00000497806.3:p.Pro301GlnfsTer29
ENST00000648263.1:c.593del ENSP00000498035.1:p.Pro198GlnfsTer29
ENST00000648707.1:n.808del
ENST00000648896.1:c.872del ENSP00000497546.1:p.Pro291GlnfsTer29
ENST00000649186.1:c.593del ENSP00000497879.1:p.Pro198GlnfsTer29
ENST00000649520.1:c.593del ENSP00000497647.1:p.Pro198GlnfsTer29
ENST00000649971.1:c.692del ENSP00000497011.1:p.Pro231GlnfsTer29
ENST00000650120.1:c.593del ENSP00000497553.1:p.Pro198GlnfsTer29
XM_005256489.2:c.893del XP_005256546.1:p.Pro298GlnfsTer29
XM_005256491.1:c.863del XP_005256548.1:p.Pro288GlnfsTer29
XM_005256492.1:c.773del XP_005256549.1:p.Pro258GlnfsTer29
XM_005256493.3:c.593del XP_005256550.1:p.Pro198GlnfsTer29
XM_005256494.2:c.593del XP_005256551.1:p.Pro198GlnfsTer29
XM_011523698.1:c.992del XP_011522000.1:p.Pro331GlnfsTer29
XM_011523699.1:c.992del XP_011522001.1:p.Pro331GlnfsTer29
XM_011523699.2:c.992del XP_011522001.1:p.Pro331GlnfsTer29
XM_011523700.1:c.785del XP_011522002.1:p.Pro262GlnfsTer29
XM_011523701.1:c.875del XP_011522003.1:p.Pro292GlnfsTer29
XM_011523702.1:c.593del XP_011522004.1:p.Pro198GlnfsTer29
XM_017024288.2:c.707del XP_016879777.1:p.Pro236GlnfsTer29
XM_017024289.2:c.698del XP_016879778.1:p.Pro233GlnfsTer29
XM_017024290.2:c.692del XP_016879779.1:p.Pro231GlnfsTer29
XM_024450629.1:c.758del XP_024306397.1:p.Pro253GlnfsTer29
XR_243545.2:n.1901del
XR_934005.1:n.1991del
XR_934005.2:n.1985del