Canonical Allele Identifier: CA397715034

Gene: DLG4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7193504T>A , CM000679.2:g.7193504T>A	GRCh38
NC_000017.10:g.7096823T>A , CM000679.1:g.7096823T>A	GRCh37
NC_000017.9:g.7037547T>A	NCBI36
NG_008391.2:g.31547A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001321075.3:c.1672A>T MANE Select	NP_001308004.1:p.Lys558Ter
ENST00000399506.9:c.1672A>T MANE Select	ENSP00000382425.2:p.Lys558Ter
NM_001128827.1:c.1663A>T	NP_001122299.1:p.Lys555Ter
NM_001128827.2:c.1663A>T	NP_001122299.1:p.Lys555Ter
NM_001128827.3:c.1663A>T	NP_001122299.1:p.Lys555Ter
NM_001128827.4:c.1663A>T	NP_001122299.1:p.Lys555Ter
NM_001321074.1:c.1792A>T	NP_001308003.1:p.Lys598Ter
NM_001321075.1:c.1672A>T	NP_001308004.1:p.Lys558Ter
NM_001321076.1:c.1492A>T	NP_001308005.1:p.Lys498Ter
NM_001321076.2:c.1492A>T	NP_001308005.1:p.Lys498Ter
NM_001321076.3:c.1492A>T	NP_001308005.1:p.Lys498Ter
NM_001321077.1:c.1492A>T	NP_001308006.1:p.Lys498Ter
NM_001321077.2:c.1492A>T	NP_001308006.1:p.Lys498Ter
NM_001321077.3:c.1492A>T	NP_001308006.1:p.Lys498Ter
NM_001365.3:c.1801A>T	NP_001356.1:p.Lys601Ter
NM_001365.4:c.1801A>T	NP_001356.1:p.Lys601Ter
NM_001369566.2:c.1591A>T	NP_001356495.1:p.Lys531Ter
NM_001369566.3:c.1591A>T	NP_001356495.1:p.Lys531Ter
NR_135527.1:n.3002A>T
ENST00000302955.10:c.1663A>T	ENSP00000307471.6:p.Lys555Ter
ENST00000302955.11:c.1663A>T	ENSP00000307471.6:p.Lys555Ter
ENST00000399506.6:c.1672A>T	ENSP00000382425.2:p.Lys558Ter
ENST00000399510.6:c.1801A>T	ENSP00000382428.2:p.Lys601Ter
ENST00000399510.8:c.1792A>T	ENSP00000382428.3:p.Lys598Ter
ENST00000491753.1:c.54A>T
ENST00000491753.2:c.1801A>T	ENSP00000467897.2:p.Lys601Ter
ENST00000648103.1:n.960A>T
ENST00000648103.2:n.2250A>T
ENST00000648172.8:c.1801A>T	ENSP00000497806.3:p.Lys601Ter
ENST00000648707.1:n.1707A>T
ENST00000648896.1:c.1771A>T	ENSP00000497546.1:p.Lys591Ter
ENST00000649186.1:c.1492A>T	ENSP00000497879.1:p.Lys498Ter
ENST00000649520.1:c.1492A>T	ENSP00000497647.1:p.Lys498Ter
ENST00000649971.1:c.1591A>T	ENSP00000497011.1:p.Lys531Ter
ENST00000650120.1:c.1492A>T	ENSP00000497553.1:p.Lys498Ter
XM_005256489.2:c.1792A>T	XP_005256546.1:p.Lys598Ter
XM_005256491.1:c.1762A>T	XP_005256548.1:p.Lys588Ter
XM_005256492.1:c.1672A>T	XP_005256549.1:p.Lys558Ter
XM_005256493.3:c.1492A>T	XP_005256550.1:p.Lys498Ter
XM_005256494.2:c.1492A>T	XP_005256551.1:p.Lys498Ter
XM_011523698.1:c.1891A>T	XP_011522000.1:p.Lys631Ter
XM_011523699.1:c.1891A>T	XP_011522001.1:p.Lys631Ter
XM_011523699.2:c.1891A>T	XP_011522001.1:p.Lys631Ter
XM_011523700.1:c.1684A>T	XP_011522002.1:p.Lys562Ter
XM_011523701.1:c.1774A>T	XP_011522003.1:p.Lys592Ter
XM_011523702.1:c.1492A>T	XP_011522004.1:p.Lys498Ter
XM_017024288.2:c.1606A>T	XP_016879777.1:p.Lys536Ter
XM_017024289.2:c.1597A>T	XP_016879778.1:p.Lys533Ter
XM_017024290.2:c.1591A>T	XP_016879779.1:p.Lys531Ter
XM_024450629.1:c.1657A>T	XP_024306397.1:p.Lys553Ter
XR_243545.2:n.2800A>T
XR_934005.1:n.2890A>T
XR_934005.2:n.2884A>T