Canonical Allele Identifier: CA658798701

Gene: DLG4

Linked Data

• ClinVar Variation Id: 523996
• ClinVar RCV Id: RCV000627488
• dbSNP Id: rs1555522077
• MyVariant Identifiers: chr17:g.7099824del (hg19) ; chr17:g.7196505del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7196505del , CM000679.2:g.7196505del	GRCh38
NC_000017.10:g.7099824del , CM000679.1:g.7099824del	GRCh37
NC_000017.9:g.7040548del	NCBI36
NG_008391.2:g.28546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648103.2:n.1414del
ENST00000302955.11:c.1145del	ENSP00000307471.6:p.Thr382ArgfsTer28
ENST00000399506.9:c.1154del MANE Select	ENSP00000382425.2:p.Thr385ArgfsTer28
ENST00000399510.8:c.1274del	ENSP00000382428.3:p.Thr425ArgfsTer28
ENST00000491753.2:c.1283del	ENSP00000467897.2:p.Thr428ArgfsTer28
ENST00000648103.1:n.124del
ENST00000648172.8:c.1283del	ENSP00000497806.3:p.Thr428ArgfsTer28
ENST00000648263.1:c.974del	ENSP00000498035.1:p.Thr325ArgfsTer28
ENST00000648707.1:n.1189del
ENST00000648896.1:c.1253del	ENSP00000497546.1:p.Thr418ArgfsTer28
ENST00000649186.1:c.974del	ENSP00000497879.1:p.Thr325ArgfsTer28
ENST00000649520.1:c.974del	ENSP00000497647.1:p.Thr325ArgfsTer28
ENST00000649971.1:c.1073del	ENSP00000497011.1:p.Thr358ArgfsTer28
ENST00000650120.1:c.974del	ENSP00000497553.1:p.Thr325ArgfsTer28
ENST00000302955.10:c.1145del	ENSP00000307471.6:p.Thr382ArgfsTer28
ENST00000399506.6:c.1154del	ENSP00000382425.2:p.Thr385ArgfsTer28
ENST00000399510.6:c.1283del	ENSP00000382428.2:p.Thr428ArgfsTer28
NM_001128827.1:c.1145del	NP_001122299.1:p.Thr382ArgfsTer28
NM_001365.3:c.1283del	NP_001356.1:p.Thr428ArgfsTer28
XM_005256489.2:c.1274del	XP_005256546.1:p.Thr425ArgfsTer28
XM_005256491.1:c.1244del	XP_005256548.1:p.Thr415ArgfsTer28
XM_005256492.1:c.1154del	XP_005256549.1:p.Thr385ArgfsTer28
XM_005256493.3:c.974del	XP_005256550.1:p.Thr325ArgfsTer28
XM_005256494.2:c.974del	XP_005256551.1:p.Thr325ArgfsTer28
XM_011523698.1:c.1373del	XP_011522000.1:p.Thr458ArgfsTer28
XM_011523699.1:c.1373del	XP_011522001.1:p.Thr458ArgfsTer28
XM_011523700.1:c.1166del	XP_011522002.1:p.Thr389ArgfsTer28
XM_011523701.1:c.1256del	XP_011522003.1:p.Thr419ArgfsTer28
XM_011523702.1:c.974del	XP_011522004.1:p.Thr325ArgfsTer28
XR_243545.2:n.2282del
XR_934005.1:n.2372del
NM_001128827.2:c.1145del	NP_001122299.1:p.Thr382ArgfsTer28
NM_001321074.1:c.1274del	NP_001308003.1:p.Thr425ArgfsTer28
NM_001321075.1:c.1154del	NP_001308004.1:p.Thr385ArgfsTer28
NM_001321076.1:c.974del	NP_001308005.1:p.Thr325ArgfsTer28
NM_001321077.1:c.974del	NP_001308006.1:p.Thr325ArgfsTer28
NM_001365.4:c.1283del	NP_001356.1:p.Thr428ArgfsTer28
NR_135527.1:n.2484del
XM_011523699.2:c.1373del	XP_011522001.1:p.Thr458ArgfsTer28
XM_017024288.2:c.1088del	XP_016879777.1:p.Thr363ArgfsTer28
XM_017024289.2:c.1079del	XP_016879778.1:p.Thr360ArgfsTer28
XM_017024290.2:c.1073del	XP_016879779.1:p.Thr358ArgfsTer28
XM_024450629.1:c.1139del	XP_024306397.1:p.Thr380ArgfsTer28
XR_934005.2:n.2366del
NM_001128827.3:c.1145del	NP_001122299.1:p.Thr382ArgfsTer28
NM_001321075.3:c.1154del MANE Select	NP_001308004.1:p.Thr385ArgfsTer28
NM_001321076.2:c.974del	NP_001308005.1:p.Thr325ArgfsTer28
NM_001321077.2:c.974del	NP_001308006.1:p.Thr325ArgfsTer28
NM_001369566.2:c.1073del	NP_001356495.1:p.Thr358ArgfsTer28
NM_001128827.4:c.1145del	NP_001122299.1:p.Thr382ArgfsTer28
NM_001321076.3:c.974del	NP_001308005.1:p.Thr325ArgfsTer28
NM_001321077.3:c.974del	NP_001308006.1:p.Thr325ArgfsTer28
NM_001369566.3:c.1073del	NP_001356495.1:p.Thr358ArgfsTer28