Canonical Allele Identifier: CA2635778052

Gene: ACADVL DLG4

Linked Data

• gnomAD v4: 17-7219842-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219842C>A , CM000679.2:g.7219842C>A	GRCh38
NC_000017.10:g.7123161C>A , CM000679.1:g.7123161C>A	GRCh37
NC_000017.9:g.7063885C>A	NCBI36
NG_007975.1:g.5009C>A
NG_008391.2:g.5209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.9:c.-143C>A (ACADVL)	ENSP00000349297.5:n.-143C>A
ENST00000543245.6:c.132-280C>A (ACADVL)	ENSP00000438689.2:n.132-280C>A
NM_000018.3:c.-143C>A (ACADVL)	NP_000009.1:n.-143C>A
NM_001033859.2:c.-143C>A (ACADVL)	NP_001029031.1:n.-143C>A
NM_001270447.1:c.132-280C>A (ACADVL)	NP_001257376.1:n.132-280C>A
NM_001270448.1:c.-446C>A (ACADVL)	NP_001257377.1:n.-446C>A
NM_001365.3:c.-993G>T (DLG4)	NP_001356.1:n.-993G>T
XM_005256489.2:c.-993G>T (DLG4)	XP_005256546.1:n.-993G>T
XM_011523698.1:c.-993G>T (DLG4)	XP_011522000.1:n.-993G>T
XR_243545.2:n.7G>T (DLG4)
XR_934005.1:n.7G>T (DLG4)
NM_001321074.1:c.-993G>T (DLG4)	NP_001308003.1:n.-993G>T
NM_001365.4:c.-993G>T (DLG4)	NP_001356.1:n.-993G>T
NR_135527.1:n.209G>T (DLG4)
XR_934005.2:n.1G>T (DLG4)
NM_001270447.2:c.132-280C>A (ACADVL)	NP_001257376.1:n.132-280C>A