Canonical Allele Identifier: CA397720239
Community Standard Title: NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter)
Gene: DLG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7204025C>A , CM000679.2:g.7204025C>A GRCh38
NC_000017.10:g.7107344C>A , CM000679.1:g.7107344C>A GRCh37
NC_000017.9:g.7048068C>A NCBI36
NG_008391.2:g.21026G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001321075.3:c.193G>T MANE Select NP_001308004.1:p.Glu65Ter
ENST00000399506.9:c.193G>T MANE Select ENSP00000382425.2:p.Glu65Ter
NM_001128827.1:c.184G>T NP_001122299.1:p.Glu62Ter
NM_001128827.2:c.184G>T NP_001122299.1:p.Glu62Ter
NM_001128827.3:c.184G>T NP_001122299.1:p.Glu62Ter
NM_001128827.4:c.184G>T NP_001122299.1:p.Glu62Ter
NM_001321074.1:c.313G>T NP_001308003.1:p.Glu105Ter
NM_001321075.1:c.193G>T NP_001308004.1:p.Glu65Ter
NM_001321076.1:c.13G>T NP_001308005.1:p.Glu5Ter
NM_001321076.2:c.13G>T NP_001308005.1:p.Glu5Ter
NM_001321076.3:c.13G>T NP_001308005.1:p.Glu5Ter
NM_001321077.1:c.13G>T NP_001308006.1:p.Glu5Ter
NM_001321077.2:c.13G>T NP_001308006.1:p.Glu5Ter
NM_001321077.3:c.13G>T NP_001308006.1:p.Glu5Ter
NM_001365.3:c.322G>T NP_001356.1:p.Glu108Ter
NM_001365.4:c.322G>T NP_001356.1:p.Glu108Ter
NM_001369566.2:c.112G>T NP_001356495.1:p.Glu38Ter
NM_001369566.3:c.112G>T NP_001356495.1:p.Glu38Ter
NR_135527.1:n.1523G>T
ENST00000302955.10:c.184G>T ENSP00000307471.6:p.Glu62Ter
ENST00000302955.11:c.184G>T ENSP00000307471.6:p.Glu62Ter
ENST00000399506.6:c.193G>T ENSP00000382425.2:p.Glu65Ter
ENST00000399510.6:c.322G>T ENSP00000382428.2:p.Glu108Ter
ENST00000399510.8:c.313G>T ENSP00000382428.3:p.Glu105Ter
ENST00000447163.5:c.283G>T ENSP00000388122.1:p.Glu95Ter
ENST00000447163.6:c.283G>T ENSP00000388122.2:p.Glu95Ter
ENST00000451807.6:c.292G>T ENSP00000407918.2:p.Glu98Ter
ENST00000451807.7:c.109G>T ENSP00000407918.3:p.Glu37Ter
ENST00000485100.5:c.184G>T ENSP00000460625.1:p.Glu62Ter
ENST00000486626.7:c.13G>T ENSP00000465720.1:p.Glu5Ter
ENST00000486626.8:c.13G>T ENSP00000465720.2:p.Glu5Ter
ENST00000491753.2:c.322G>T ENSP00000467897.2:p.Glu108Ter
ENST00000493294.1:c.13G>T ENSP00000465789.1:p.Glu5Ter
ENST00000493294.2:c.100G>T ENSP00000465789.2:p.Glu34Ter
ENST00000647975.1:c.127G>T ENSP00000497912.1:p.Glu43Ter
ENST00000648103.2:n.453G>T
ENST00000648172.8:c.322G>T ENSP00000497806.3:p.Glu108Ter
ENST00000648263.1:c.13G>T ENSP00000498035.1:p.Glu5Ter
ENST00000648658.1:c.205G>T ENSP00000496903.1:p.Glu69Ter
ENST00000648707.1:n.228G>T
ENST00000648760.1:c.13G>T ENSP00000497462.1:p.Glu5Ter
ENST00000648896.1:c.292G>T ENSP00000497546.1:p.Glu98Ter
ENST00000649186.1:c.13G>T ENSP00000497879.1:p.Glu5Ter
ENST00000649520.1:c.13G>T ENSP00000497647.1:p.Glu5Ter
ENST00000649971.1:c.112G>T ENSP00000497011.1:p.Glu38Ter
ENST00000650120.1:c.13G>T ENSP00000497553.1:p.Glu5Ter
ENST00000650301.1:c.121G>T ENSP00000497662.1:p.Glu41Ter
XM_005256489.2:c.313G>T XP_005256546.1:p.Glu105Ter
XM_005256491.1:c.283G>T XP_005256548.1:p.Glu95Ter
XM_005256492.1:c.193G>T XP_005256549.1:p.Glu65Ter
XM_005256493.3:c.13G>T XP_005256550.1:p.Glu5Ter
XM_005256494.2:c.13G>T XP_005256551.1:p.Glu5Ter
XM_011523698.1:c.412G>T XP_011522000.1:p.Glu138Ter
XM_011523699.1:c.412G>T XP_011522001.1:p.Glu138Ter
XM_011523699.2:c.412G>T XP_011522001.1:p.Glu138Ter
XM_011523700.1:c.205G>T XP_011522002.1:p.Glu69Ter
XM_011523701.1:c.295G>T XP_011522003.1:p.Glu99Ter
XM_011523702.1:c.13G>T XP_011522004.1:p.Glu5Ter
XM_017024288.2:c.127G>T XP_016879777.1:p.Glu43Ter
XM_017024289.2:c.118G>T XP_016879778.1:p.Glu40Ter
XM_017024290.2:c.112G>T XP_016879779.1:p.Glu38Ter
XM_024450629.1:c.178G>T XP_024306397.1:p.Glu60Ter
XR_243545.2:n.1321G>T
XR_934005.1:n.1411G>T
XR_934005.2:n.1405G>T