Canonical Allele Identifier: CA981151370

Gene: DLG4 ACADVL

Linked Data

• dbSNP Id: rs2071091425
• gnomAD v3: 17-7219777-AG-A
• gnomAD v4: 17-7219777-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219780del , CM000679.2:g.7219780del	GRCh38
NC_000017.10:g.7123099del , CM000679.1:g.7123099del	GRCh37
NC_000017.9:g.7063823del	NCBI36
NG_007975.1:g.4947del
NG_008391.2:g.5273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-929del (DLG4)	ENSP00000382428.3:n.-929del
ENST00000648172.8:c.-929del (DLG4)	ENSP00000497806.3:n.-929del
ENST00000543245.6:c.132-342del (ACADVL)	ENSP00000438689.2:n.132-342del
NM_001270447.1:c.132-342del (ACADVL)	NP_001257376.1:n.132-342del
NM_001365.3:c.-929del (DLG4)	NP_001356.1:n.-929del
XM_005256489.2:c.-929del (DLG4)	XP_005256546.1:n.-929del
XM_011523698.1:c.-929del (DLG4)	XP_011522000.1:n.-929del
XM_011523699.1:c.-199del (DLG4)	XP_011522001.1:n.-199del
XR_243545.2:n.71del (DLG4)
XR_934005.1:n.71del (DLG4)
NM_001321074.1:c.-929del (DLG4)	NP_001308003.1:n.-929del
NM_001365.4:c.-929del (DLG4)	NP_001356.1:n.-929del
NR_135527.1:n.273del (DLG4)
XM_011523699.2:c.-199del (DLG4)	XP_011522001.1:n.-199del
XR_934005.2:n.65del (DLG4)
NM_001270447.2:c.132-342del (ACADVL)	NP_001257376.1:n.132-342del