Canonical Allele Identifier: CA2580094752

Gene: DLG4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7194415_7194418del , CM000679.2:g.7194415_7194418del	GRCh38
NC_000017.10:g.7097734_7097737del , CM000679.1:g.7097734_7097737del	GRCh37
NC_000017.9:g.7038458_7038461del	NCBI36
NG_008391.2:g.30635_30638del

Transcript Alleles

HGVS	Amino-acid Change
NM_001321075.3:c.1381_1384del MANE Select	NP_001308004.1:p.His461SerfsTer?
ENST00000399506.9:c.1381_1384del MANE Select	ENSP00000382425.2:p.His461SerfsTer?
NM_001128827.1:c.1372_1375del	NP_001122299.1:p.His458SerfsTer?
NM_001128827.2:c.1372_1375del	NP_001122299.1:p.His458SerfsTer?
NM_001128827.3:c.1372_1375del	NP_001122299.1:p.His458SerfsTer?
NM_001128827.4:c.1372_1375del	NP_001122299.1:p.His458SerfsTer?
NM_001321074.1:c.1501_1504del	NP_001308003.1:p.His501SerfsTer?
NM_001321075.1:c.1381_1384del	NP_001308004.1:p.His461SerfsTer?
NM_001321076.1:c.1201_1204del	NP_001308005.1:p.His401SerfsTer?
NM_001321076.2:c.1201_1204del	NP_001308005.1:p.His401SerfsTer?
NM_001321076.3:c.1201_1204del	NP_001308005.1:p.His401SerfsTer?
NM_001321077.1:c.1201_1204del	NP_001308006.1:p.His401SerfsTer?
NM_001321077.2:c.1201_1204del	NP_001308006.1:p.His401SerfsTer?
NM_001321077.3:c.1201_1204del	NP_001308006.1:p.His401SerfsTer?
NM_001365.3:c.1510_1513del	NP_001356.1:p.His504SerfsTer?
NM_001365.4:c.1510_1513del	NP_001356.1:p.His504SerfsTer?
NM_001369566.2:c.1300_1303del	NP_001356495.1:p.His434SerfsTer?
NM_001369566.3:c.1300_1303del	NP_001356495.1:p.His434SerfsTer?
NR_135527.1:n.2711_2714del
ENST00000302955.10:c.1372_1375del	ENSP00000307471.6:p.His458SerfsTer?
ENST00000302955.11:c.1372_1375del	ENSP00000307471.6:p.His458SerfsTer?
ENST00000399506.6:c.1381_1384del	ENSP00000382425.2:p.His461SerfsTer?
ENST00000399510.6:c.1510_1513del	ENSP00000382428.2:p.His504SerfsTer?
ENST00000399510.8:c.1501_1504del	ENSP00000382428.3:p.His501SerfsTer?
ENST00000491753.2:c.1510_1513del	ENSP00000467897.2:p.His504SerfsTer?
ENST00000648103.1:n.351_354del
ENST00000648103.2:n.1641_1644del
ENST00000648172.8:c.1510_1513del	ENSP00000497806.3:p.His504SerfsTer?
ENST00000648263.1:c.1201_1204del	ENSP00000498035.1:p.His401SerfsTer?
ENST00000648707.1:n.1416_1419del
ENST00000648896.1:c.1480_1483del	ENSP00000497546.1:p.His494SerfsTer?
ENST00000649186.1:c.1201_1204del	ENSP00000497879.1:p.His401SerfsTer?
ENST00000649520.1:c.1201_1204del	ENSP00000497647.1:p.His401SerfsTer?
ENST00000649971.1:c.1300_1303del	ENSP00000497011.1:p.His434SerfsTer?
ENST00000650120.1:c.1201_1204del	ENSP00000497553.1:p.His401SerfsTer?
XM_005256489.2:c.1501_1504del	XP_005256546.1:p.His501SerfsTer?
XM_005256491.1:c.1471_1474del	XP_005256548.1:p.His491SerfsTer?
XM_005256492.1:c.1381_1384del	XP_005256549.1:p.His461SerfsTer?
XM_005256493.3:c.1201_1204del	XP_005256550.1:p.His401SerfsTer?
XM_005256494.2:c.1201_1204del	XP_005256551.1:p.His401SerfsTer?
XM_011523698.1:c.1600_1603del	XP_011522000.1:p.His534SerfsTer?
XM_011523699.1:c.1600_1603del	XP_011522001.1:p.His534SerfsTer?
XM_011523699.2:c.1600_1603del	XP_011522001.1:p.His534SerfsTer?
XM_011523700.1:c.1393_1396del	XP_011522002.1:p.His465SerfsTer?
XM_011523701.1:c.1483_1486del	XP_011522003.1:p.His495SerfsTer?
XM_011523702.1:c.1201_1204del	XP_011522004.1:p.His401SerfsTer?
XM_017024288.2:c.1315_1318del	XP_016879777.1:p.His439SerfsTer?
XM_017024289.2:c.1306_1309del	XP_016879778.1:p.His436SerfsTer?
XM_017024290.2:c.1300_1303del	XP_016879779.1:p.His434SerfsTer?
XM_024450629.1:c.1366_1369del	XP_024306397.1:p.His456SerfsTer?
XR_243545.2:n.2509_2512del
XR_934005.1:n.2599_2602del
XR_934005.2:n.2593_2596del