Canonical Allele Identifier: CA981151415

Gene: DLG4 ACADVL

Linked Data

• dbSNP Id: rs2071092194
• gnomAD v3: 17-7219798-TAA-T
• gnomAD v4: 17-7219798-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219799_7219800del , CM000679.2:g.7219799_7219800del	GRCh38
NC_000017.10:g.7123118_7123119del , CM000679.1:g.7123118_7123119del	GRCh37
NC_000017.9:g.7063842_7063843del	NCBI36
NG_007975.1:g.4966_4967del
NG_008391.2:g.5251_5252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-951_-950del (DLG4)	ENSP00000382428.3:n.-951_-950del
ENST00000648172.8:c.-951_-950del (DLG4)	ENSP00000497806.3:n.-951_-950del
ENST00000543245.6:c.132-323_132-322del (ACADVL)	ENSP00000438689.2:n.132-323_132-322del
NM_001270447.1:c.132-323_132-322del (ACADVL)	NP_001257376.1:n.132-323_132-322del
NM_001365.3:c.-951_-950del (DLG4)	NP_001356.1:n.-951_-950del
XM_005256489.2:c.-951_-950del (DLG4)	XP_005256546.1:n.-951_-950del
XM_011523698.1:c.-951_-950del (DLG4)	XP_011522000.1:n.-951_-950del
XM_011523699.1:c.-221_-220del (DLG4)	XP_011522001.1:n.-221_-220del
XR_243545.2:n.49_50del (DLG4)
XR_934005.1:n.49_50del (DLG4)
NM_001321074.1:c.-951_-950del (DLG4)	NP_001308003.1:n.-951_-950del
NM_001365.4:c.-951_-950del (DLG4)	NP_001356.1:n.-951_-950del
NR_135527.1:n.251_252del (DLG4)
XM_011523699.2:c.-221_-220del (DLG4)	XP_011522001.1:n.-221_-220del
XR_934005.2:n.43_44del (DLG4)
NM_001270447.2:c.132-323_132-322del (ACADVL)	NP_001257376.1:n.132-323_132-322del