Canonical Allele Identifier: CA2580094756
Community Standard Title: NM_001321075.3(DLG4):c.143dup (p.Gly49ArgfsTer3)
Gene: DLG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7204209dup , CM000679.2:g.7204209dup GRCh38
NC_000017.10:g.7107528dup , CM000679.1:g.7107528dup GRCh37
NC_000017.9:g.7048252dup NCBI36
NG_008391.2:g.20845dup

Transcript Alleles

HGVS Amino-acid Change
NM_001321075.3:c.143dup MANE Select NP_001308004.1:p.Gly49ArgfsTer3
ENST00000399506.9:c.143dup MANE Select ENSP00000382425.2:p.Gly49ArgfsTer3
NM_001128827.1:c.143dup NP_001122299.1:p.Gly49ArgfsTer21
NM_001128827.2:c.143dup NP_001122299.1:p.Gly49ArgfsTer21
NM_001128827.3:c.143dup NP_001122299.1:p.Gly49ArgfsTer21
NM_001128827.4:c.143dup NP_001122299.1:p.Gly49ArgfsTer21
NM_001321074.1:c.272dup NP_001308003.1:p.Gly92ArgfsTer21
NM_001321075.1:c.143dup NP_001308004.1:p.Gly49ArgfsTer3
NM_001321076.1:c.-38dup NP_001308005.1:n.-38dup
NM_001321076.2:c.-38dup NP_001308005.1:n.-38dup
NM_001321076.3:c.-38dup NP_001308005.1:n.-38dup
NM_001321077.1:c.-29dup NP_001308006.1:n.-29dup
NM_001321077.2:c.-29dup NP_001308006.1:n.-29dup
NM_001321077.3:c.-29dup NP_001308006.1:n.-29dup
NM_001365.3:c.272dup NP_001356.1:p.Gly92ArgfsTer3
NM_001365.4:c.272dup NP_001356.1:p.Gly92ArgfsTer3
NM_001369566.2:c.71dup NP_001356495.1:p.Gly25ArgfsTer21
NM_001369566.3:c.71dup NP_001356495.1:p.Gly25ArgfsTer21
NR_135527.1:n.1473dup
ENST00000302955.10:c.143dup ENSP00000307471.6:p.Gly49ArgfsTer21
ENST00000302955.11:c.143dup ENSP00000307471.6:p.Gly49ArgfsTer21
ENST00000399506.6:c.143dup ENSP00000382425.2:p.Gly49ArgfsTer3
ENST00000399510.6:c.272dup ENSP00000382428.2:p.Gly92ArgfsTer3
ENST00000399510.8:c.272dup ENSP00000382428.3:p.Gly92ArgfsTer21
ENST00000447163.5:c.242dup ENSP00000388122.1:p.Gly82ArgfsTer21
ENST00000447163.6:c.242dup ENSP00000388122.2:p.Gly82ArgfsTer21
ENST00000451807.6:c.242dup ENSP00000407918.2:p.Gly82ArgfsTer3
ENST00000451807.7:c.59dup ENSP00000407918.3:p.Gly21ArgfsTer3
ENST00000485100.5:c.143dup ENSP00000460625.1:p.Gly49ArgfsTer21
ENST00000486626.7:c.-38dup ENSP00000465720.1:n.-38dup
ENST00000486626.8:c.-29dup ENSP00000465720.2:n.-29dup
ENST00000491753.2:c.272dup ENSP00000467897.2:p.Gly92ArgfsTer3
ENST00000493294.1:c.-29dup ENSP00000465789.1:n.-29dup
ENST00000493294.2:c.59dup ENSP00000465789.2:p.Gly21ArgfsTer21
ENST00000647975.1:c.77dup ENSP00000497912.1:p.Gly27ArgfsTer3
ENST00000648103.2:n.412dup
ENST00000648172.8:c.272dup ENSP00000497806.3:p.Gly92ArgfsTer3
ENST00000648263.1:c.-38dup ENSP00000498035.1:n.-38dup
ENST00000648658.1:c.155dup ENSP00000496903.1:p.Gly53ArgfsTer3
ENST00000648707.1:n.178dup
ENST00000648760.1:c.-38dup ENSP00000497462.1:n.-38dup
ENST00000648896.1:c.242dup ENSP00000497546.1:p.Gly82ArgfsTer3
ENST00000649186.1:c.-29dup ENSP00000497879.1:n.-29dup
ENST00000649520.1:c.-38dup ENSP00000497647.1:n.-38dup
ENST00000649971.1:c.71dup ENSP00000497011.1:p.Gly25ArgfsTer21
ENST00000650120.1:c.-29dup ENSP00000497553.1:n.-29dup
ENST00000650301.1:c.71dup ENSP00000497662.1:p.Gly25ArgfsTer3
XM_005256489.2:c.272dup XP_005256546.1:p.Gly92ArgfsTer21
XM_005256491.1:c.242dup XP_005256548.1:p.Gly82ArgfsTer21
XM_005256492.1:c.143dup XP_005256549.1:p.Gly49ArgfsTer3
XM_005256493.3:c.-38dup XP_005256550.1:n.-38dup
XM_005256494.2:c.-29dup XP_005256551.1:n.-29dup
XM_011523698.1:c.371dup XP_011522000.1:p.Gly125ArgfsTer21
XM_011523699.1:c.371dup XP_011522001.1:p.Gly125ArgfsTer21
XM_011523699.2:c.371dup XP_011522001.1:p.Gly125ArgfsTer21
XM_011523700.1:c.155dup XP_011522002.1:p.Gly53ArgfsTer3
XM_011523701.1:c.254dup XP_011522003.1:p.Gly86ArgfsTer21
XM_011523702.1:c.-38dup XP_011522004.1:n.-38dup
XM_017024288.2:c.77dup XP_016879777.1:p.Gly27ArgfsTer3
XM_017024289.2:c.77dup XP_016879778.1:p.Gly27ArgfsTer21
XM_017024290.2:c.71dup XP_016879779.1:p.Gly25ArgfsTer21
XM_024450629.1:c.128dup XP_024306397.1:p.Gly44ArgfsTer3
XR_243545.2:n.1271dup
XR_934005.1:n.1370dup
XR_934005.2:n.1364dup