Canonical Allele Identifier: CA1139532606
Community Standard Title: NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692TrpfsTer12)
Gene: DLG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7190805_7190809delinsA , CM000679.2:g.7190805_7190809delinsA GRCh38
NC_000017.10:g.7094124_7094128delinsA , CM000679.1:g.7094124_7094128delinsA GRCh37
NC_000017.9:g.7034848_7034852delinsA NCBI36
NG_008391.2:g.34242_34246delinsT

Transcript Alleles

HGVS Amino-acid Change
NM_001321075.3:c.2074_2078delinsT MANE Select NP_001308004.1:p.Val692TrpfsTer12
ENST00000399506.9:c.2074_2078delinsT MANE Select ENSP00000382425.2:p.Val692TrpfsTer12
NM_001128827.1:c.2065_2069delinsT NP_001122299.1:p.Val689TrpfsTer12
NM_001128827.2:c.2065_2069delinsT NP_001122299.1:p.Val689TrpfsTer12
NM_001128827.3:c.2065_2069delinsT NP_001122299.1:p.Val689TrpfsTer12
NM_001128827.4:c.2065_2069delinsT NP_001122299.1:p.Val689TrpfsTer12
NM_001321074.1:c.2194_2198delinsT NP_001308003.1:p.Val732TrpfsTer12
NM_001321075.1:c.2074_2078delinsT NP_001308004.1:p.Val692TrpfsTer12
NM_001321076.1:c.1894_1898delinsT NP_001308005.1:p.Val632TrpfsTer12
NM_001321076.2:c.1894_1898delinsT NP_001308005.1:p.Val632TrpfsTer12
NM_001321076.3:c.1894_1898delinsT NP_001308005.1:p.Val632TrpfsTer12
NM_001321077.1:c.1894_1898delinsT NP_001308006.1:p.Val632TrpfsTer12
NM_001321077.2:c.1894_1898delinsT NP_001308006.1:p.Val632TrpfsTer12
NM_001321077.3:c.1894_1898delinsT NP_001308006.1:p.Val632TrpfsTer12
NM_001365.3:c.2203_2207delinsT NP_001356.1:p.Val735TrpfsTer12
NM_001365.4:c.2203_2207delinsT NP_001356.1:p.Val735TrpfsTer12
NM_001369566.2:c.1993_1997delinsT NP_001356495.1:p.Val665TrpfsTer12
NM_001369566.3:c.1993_1997delinsT NP_001356495.1:p.Val665TrpfsTer12
NR_135527.1:n.3294_3298delinsT
ENST00000302955.10:c.2065_2069delinsT ENSP00000307471.6:p.Val689TrpfsTer12
ENST00000302955.11:c.2065_2069delinsT ENSP00000307471.6:p.Val689TrpfsTer12
ENST00000399506.6:c.2074_2078delinsT ENSP00000382425.2:p.Val692TrpfsTer12
ENST00000399510.6:c.2203_2207delinsT ENSP00000382428.2:p.Val735TrpfsTer12
ENST00000399510.8:c.2194_2198delinsT ENSP00000382428.3:p.Val732TrpfsTer12
ENST00000489885.1:n.975_979delinsT
ENST00000491753.1:c.346_350delinsT
ENST00000491753.2:c.*89_*93delinsT ENSP00000467897.2:n.*89_*93delinsT
ENST00000648103.1:n.1362_1366delinsT
ENST00000648103.2:n.2652_2656delinsT
ENST00000648172.8:c.2203_2207delinsT ENSP00000497806.3:p.Val735TrpfsTer12
ENST00000648707.1:n.2109_2113delinsT
ENST00000648896.1:c.2173_2177delinsT ENSP00000497546.1:p.Val725TrpfsTer12
ENST00000649186.1:c.1894_1898delinsT ENSP00000497879.1:p.Val632TrpfsTer12
ENST00000649514.1:n.416_420delinsT
ENST00000649520.1:c.1894_1898delinsT ENSP00000497647.1:p.Val632TrpfsTer12
ENST00000649971.1:c.1993_1997delinsT ENSP00000497011.1:p.Val665TrpfsTer12
XM_005256489.2:c.2194_2198delinsT XP_005256546.1:p.Val732TrpfsTer12
XM_005256491.1:c.2164_2168delinsT XP_005256548.1:p.Val722TrpfsTer12
XM_005256492.1:c.2074_2078delinsT XP_005256549.1:p.Val692TrpfsTer12
XM_005256493.3:c.1894_1898delinsT XP_005256550.1:p.Val632TrpfsTer12
XM_005256494.2:c.1894_1898delinsT XP_005256551.1:p.Val632TrpfsTer12
XM_011523698.1:c.2293_2297delinsT XP_011522000.1:p.Val765TrpfsTer12
XM_011523699.1:c.2293_2297delinsT XP_011522001.1:p.Val765TrpfsTer12
XM_011523699.2:c.2293_2297delinsT XP_011522001.1:p.Val765TrpfsTer12
XM_011523700.1:c.2086_2090delinsT XP_011522002.1:p.Val696TrpfsTer12
XM_011523701.1:c.2176_2180delinsT XP_011522003.1:p.Val726TrpfsTer12
XM_011523702.1:c.1894_1898delinsT XP_011522004.1:p.Val632TrpfsTer12
XM_017024288.2:c.2008_2012delinsT XP_016879777.1:p.Val670TrpfsTer12
XM_017024289.2:c.1999_2003delinsT XP_016879778.1:p.Val667TrpfsTer12
XM_017024290.2:c.1993_1997delinsT XP_016879779.1:p.Val665TrpfsTer12
XM_024450629.1:c.2059_2063delinsT XP_024306397.1:p.Val687TrpfsTer12
XR_243545.2:n.3092_3096delinsT
XR_934005.1:n.3182_3186delinsT
XR_934005.2:n.3176_3180delinsT