Canonical Allele Identifier: CA2573130286
Community Standard Title: NM_001321075.3(DLG4):c.410_411del (p.Leu137GlnfsTer19)
Gene: DLG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7203519_7203520del , CM000679.2:g.7203519_7203520del GRCh38
NC_000017.10:g.7106838_7106839del , CM000679.1:g.7106838_7106839del GRCh37
NC_000017.9:g.7047562_7047563del NCBI36
NG_008391.2:g.21532_21533del

Transcript Alleles

HGVS Amino-acid Change
NM_001321075.3:c.410_411del MANE Select NP_001308004.1:p.Leu137GlnfsTer19
ENST00000399506.9:c.410_411del MANE Select ENSP00000382425.2:p.Leu137GlnfsTer19
NM_001128827.1:c.401_402del NP_001122299.1:p.Leu134GlnfsTer19
NM_001128827.2:c.401_402del NP_001122299.1:p.Leu134GlnfsTer19
NM_001128827.3:c.401_402del NP_001122299.1:p.Leu134GlnfsTer19
NM_001128827.4:c.401_402del NP_001122299.1:p.Leu134GlnfsTer19
NM_001321074.1:c.530_531del NP_001308003.1:p.Leu177GlnfsTer19
NM_001321075.1:c.410_411del NP_001308004.1:p.Leu137GlnfsTer19
NM_001321076.1:c.230_231del NP_001308005.1:p.Leu77GlnfsTer19
NM_001321076.2:c.230_231del NP_001308005.1:p.Leu77GlnfsTer19
NM_001321076.3:c.230_231del NP_001308005.1:p.Leu77GlnfsTer19
NM_001321077.1:c.230_231del NP_001308006.1:p.Leu77GlnfsTer19
NM_001321077.2:c.230_231del NP_001308006.1:p.Leu77GlnfsTer19
NM_001321077.3:c.230_231del NP_001308006.1:p.Leu77GlnfsTer19
NM_001365.3:c.539_540del NP_001356.1:p.Leu180GlnfsTer19
NM_001365.4:c.539_540del NP_001356.1:p.Leu180GlnfsTer19
NM_001369566.2:c.329_330del NP_001356495.1:p.Leu110GlnfsTer19
NM_001369566.3:c.329_330del NP_001356495.1:p.Leu110GlnfsTer19
NR_135527.1:n.1740_1741del
ENST00000302955.10:c.401_402del ENSP00000307471.6:p.Leu134GlnfsTer19
ENST00000302955.11:c.401_402del ENSP00000307471.6:p.Leu134GlnfsTer19
ENST00000399506.6:c.410_411del ENSP00000382425.2:p.Leu137GlnfsTer19
ENST00000399510.6:c.539_540del ENSP00000382428.2:p.Leu180GlnfsTer19
ENST00000399510.8:c.530_531del ENSP00000382428.3:p.Leu177GlnfsTer19
ENST00000447163.5:c.500_501del ENSP00000388122.1:p.Leu167GlnfsTer19
ENST00000447163.6:c.500_501del ENSP00000388122.2:p.Leu167GlnfsTer19
ENST00000451807.6:c.509_510del ENSP00000407918.2:p.Leu170GlnfsTer19
ENST00000451807.7:c.326_327del ENSP00000407918.3:p.Leu109GlnfsTer19
ENST00000485100.5:c.401_402del ENSP00000460625.1:p.Leu134GlnfsTer19
ENST00000486626.7:c.230_231del ENSP00000465720.1:p.Leu77GlnfsTer19
ENST00000486626.8:c.230_231del ENSP00000465720.2:p.Leu77GlnfsTer19
ENST00000491753.2:c.539_540del ENSP00000467897.2:p.Leu180GlnfsTer19
ENST00000493294.1:c.230_231del ENSP00000465789.1:p.Leu77GlnfsTer?
ENST00000493294.2:c.317_318del ENSP00000465789.2:p.Leu106GlnfsTer19
ENST00000647975.1:c.344_345del ENSP00000497912.1:p.Leu115GlnfsTer19
ENST00000648103.2:n.670_671del
ENST00000648172.8:c.539_540del ENSP00000497806.3:p.Leu180GlnfsTer19
ENST00000648263.1:c.230_231del ENSP00000498035.1:p.Leu77GlnfsTer19
ENST00000648707.1:n.445_446del
ENST00000648896.1:c.509_510del ENSP00000497546.1:p.Leu170GlnfsTer19
ENST00000649186.1:c.230_231del ENSP00000497879.1:p.Leu77GlnfsTer19
ENST00000649520.1:c.230_231del ENSP00000497647.1:p.Leu77GlnfsTer19
ENST00000649971.1:c.329_330del ENSP00000497011.1:p.Leu110GlnfsTer19
ENST00000650120.1:c.230_231del ENSP00000497553.1:p.Leu77GlnfsTer19
XM_005256489.2:c.530_531del XP_005256546.1:p.Leu177GlnfsTer19
XM_005256491.1:c.500_501del XP_005256548.1:p.Leu167GlnfsTer19
XM_005256492.1:c.410_411del XP_005256549.1:p.Leu137GlnfsTer19
XM_005256493.3:c.230_231del XP_005256550.1:p.Leu77GlnfsTer19
XM_005256494.2:c.230_231del XP_005256551.1:p.Leu77GlnfsTer19
XM_011523698.1:c.629_630del XP_011522000.1:p.Leu210GlnfsTer19
XM_011523699.1:c.629_630del XP_011522001.1:p.Leu210GlnfsTer19
XM_011523699.2:c.629_630del XP_011522001.1:p.Leu210GlnfsTer19
XM_011523700.1:c.422_423del XP_011522002.1:p.Leu141GlnfsTer19
XM_011523701.1:c.512_513del XP_011522003.1:p.Leu171GlnfsTer19
XM_011523702.1:c.230_231del XP_011522004.1:p.Leu77GlnfsTer19
XM_017024288.2:c.344_345del XP_016879777.1:p.Leu115GlnfsTer19
XM_017024289.2:c.335_336del XP_016879778.1:p.Leu112GlnfsTer19
XM_017024290.2:c.329_330del XP_016879779.1:p.Leu110GlnfsTer19
XM_024450629.1:c.395_396del XP_024306397.1:p.Leu132GlnfsTer19
XR_243545.2:n.1538_1539del
XR_934005.1:n.1628_1629del
XR_934005.2:n.1622_1623del