Canonical Allele Identifier: CA397715503
Community Standard Title: NM_001321075.3(DLG4):c.1478+2T>C
Gene: DLG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7194317A>G , CM000679.2:g.7194317A>G GRCh38
NC_000017.10:g.7097636A>G , CM000679.1:g.7097636A>G GRCh37
NC_000017.9:g.7038360A>G NCBI36
NG_008391.2:g.30734T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001321075.3:c.1478+2T>C MANE Select NP_001308004.1:n.1478+2T>C
ENST00000399506.9:c.1478+2T>C MANE Select ENSP00000382425.2:n.1478+2T>C
NM_001128827.1:c.1469+2T>C NP_001122299.1:n.1469+2T>C
NM_001128827.2:c.1469+2T>C NP_001122299.1:n.1469+2T>C
NM_001128827.3:c.1469+2T>C NP_001122299.1:n.1469+2T>C
NM_001128827.4:c.1469+2T>C NP_001122299.1:n.1469+2T>C
NM_001321074.1:c.1598+2T>C NP_001308003.1:n.1598+2T>C
NM_001321075.1:c.1478+2T>C NP_001308004.1:n.1478+2T>C
NM_001321076.1:c.1298+2T>C NP_001308005.1:n.1298+2T>C
NM_001321076.2:c.1298+2T>C NP_001308005.1:n.1298+2T>C
NM_001321076.3:c.1298+2T>C NP_001308005.1:n.1298+2T>C
NM_001321077.1:c.1298+2T>C NP_001308006.1:n.1298+2T>C
NM_001321077.2:c.1298+2T>C NP_001308006.1:n.1298+2T>C
NM_001321077.3:c.1298+2T>C NP_001308006.1:n.1298+2T>C
NM_001365.3:c.1607+2T>C NP_001356.1:n.1607+2T>C
NM_001365.4:c.1607+2T>C NP_001356.1:n.1607+2T>C
NM_001369566.2:c.1397+2T>C NP_001356495.1:n.1397+2T>C
NM_001369566.3:c.1397+2T>C NP_001356495.1:n.1397+2T>C
NR_135527.1:n.2808+2T>C
ENST00000302955.10:c.1469+2T>C ENSP00000307471.6:n.1469+2T>C
ENST00000302955.11:c.1469+2T>C ENSP00000307471.6:n.1469+2T>C
ENST00000399506.6:c.1478+2T>C ENSP00000382425.2:n.1478+2T>C
ENST00000399510.6:c.1607+2T>C ENSP00000382428.2:n.1607+2T>C
ENST00000399510.8:c.1598+2T>C ENSP00000382428.3:n.1598+2T>C
ENST00000491753.2:c.1607+2T>C ENSP00000467897.2:n.1607+2T>C
ENST00000648103.1:n.450T>C
ENST00000648103.2:n.1740T>C
ENST00000648172.8:c.1607+2T>C ENSP00000497806.3:n.1607+2T>C
ENST00000648263.1:c.1298+2T>C ENSP00000498035.1:n.1298+2T>C
ENST00000648707.1:n.1513+2T>C
ENST00000648896.1:c.1577+2T>C ENSP00000497546.1:n.1577+2T>C
ENST00000649186.1:c.1298+2T>C ENSP00000497879.1:n.1298+2T>C
ENST00000649520.1:c.1298+2T>C ENSP00000497647.1:n.1298+2T>C
ENST00000649971.1:c.1397+2T>C ENSP00000497011.1:n.1397+2T>C
ENST00000650120.1:c.1298+2T>C ENSP00000497553.1:n.1298+2T>C
XM_005256489.2:c.1598+2T>C XP_005256546.1:n.1598+2T>C
XM_005256491.1:c.1568+2T>C XP_005256548.1:n.1568+2T>C
XM_005256492.1:c.1478+2T>C XP_005256549.1:n.1478+2T>C
XM_005256493.3:c.1298+2T>C XP_005256550.1:n.1298+2T>C
XM_005256494.2:c.1298+2T>C XP_005256551.1:n.1298+2T>C
XM_011523698.1:c.1697+2T>C XP_011522000.1:n.1697+2T>C
XM_011523699.1:c.1697+2T>C XP_011522001.1:n.1697+2T>C
XM_011523699.2:c.1697+2T>C XP_011522001.1:n.1697+2T>C
XM_011523700.1:c.1490+2T>C XP_011522002.1:n.1490+2T>C
XM_011523701.1:c.1580+2T>C XP_011522003.1:n.1580+2T>C
XM_011523702.1:c.1298+2T>C XP_011522004.1:n.1298+2T>C
XM_017024288.2:c.1412+2T>C XP_016879777.1:n.1412+2T>C
XM_017024289.2:c.1403+2T>C XP_016879778.1:n.1403+2T>C
XM_017024290.2:c.1397+2T>C XP_016879779.1:n.1397+2T>C
XM_024450629.1:c.1463+2T>C XP_024306397.1:n.1463+2T>C
XR_243545.2:n.2606+2T>C
XR_934005.1:n.2696+2T>C
XR_934005.2:n.2690+2T>C