Canonical Allele Identifier: CA2635778776

Gene: ACADVL DLG4

Linked Data

• gnomAD v4: 17-7219946-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219946G>A , CM000679.2:g.7219946G>A	GRCh38
NC_000017.10:g.7123265G>A , CM000679.1:g.7123265G>A	GRCh37
NC_000017.9:g.7063989G>A	NCBI36
NG_007975.1:g.5113G>A
NG_008391.2:g.5105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.-39G>A (ACADVL) MANE Select	ENSP00000349297.5:n.-39G>A
ENST00000322910.9:c.-39G>A (ACADVL)	ENSP00000325395.5:n.-39G>A
ENST00000350303.9:c.-39G>A (ACADVL)	ENSP00000344152.5:n.-39G>A
ENST00000356839.9:c.-39G>A (ACADVL)	ENSP00000349297.5:n.-39G>A
ENST00000543245.6:c.132-176G>A (ACADVL)	ENSP00000438689.2:n.132-176G>A
ENST00000577191.5:n.39G>A (ACADVL)
ENST00000577857.5:n.52G>A (ACADVL)
ENST00000578269.5:n.69G>A (ACADVL)
ENST00000578421.1:n.21G>A (ACADVL)
ENST00000579286.5:n.69G>A (ACADVL)
ENST00000580263.5:n.52G>A (ACADVL)
ENST00000581562.5:n.9G>A (ACADVL)
ENST00000582056.5:n.52G>A (ACADVL)
ENST00000582356.5:n.87G>A (ACADVL)
ENST00000583312.5:c.-39G>A (ACADVL)	ENSP00000467920.1:n.-39G>A
ENST00000584103.5:c.-39G>A (ACADVL)	ENSP00000465353.1:n.-39G>A
NM_000018.3:c.-39G>A (ACADVL)	NP_000009.1:n.-39G>A
NM_001033859.2:c.-39G>A (ACADVL)	NP_001029031.1:n.-39G>A
NM_001270447.1:c.132-176G>A (ACADVL)	NP_001257376.1:n.132-176G>A
NM_001270448.1:c.-342G>A (ACADVL)	NP_001257377.1:n.-342G>A
NM_001365.3:c.-1097C>T (DLG4)	NP_001356.1:n.-1097C>T
XM_006721516.2:c.-39G>A (ACADVL)	XP_006721579.2:n.-39G>A
XM_011523829.1:c.-39G>A (ACADVL)	XP_011522131.1:n.-39G>A
XM_011523830.1:c.-39G>A (ACADVL)	XP_011522132.1:n.-39G>A
XR_934021.1:n.69G>A (ACADVL)
XR_934022.1:n.69G>A (ACADVL)
XR_934023.1:n.69G>A (ACADVL)
NM_001321074.1:c.-1097C>T (DLG4)	NP_001308003.1:n.-1097C>T
NM_001365.4:c.-1097C>T (DLG4)	NP_001356.1:n.-1097C>T
NR_135527.1:n.105C>T (DLG4)
XM_006721516.3:c.-39G>A (ACADVL)	XP_006721579.2:n.-39G>A
XM_011523829.2:c.-39G>A (ACADVL)	XP_011522131.1:n.-39G>A
XM_011523830.2:c.-39G>A (ACADVL)	XP_011522132.1:n.-39G>A
XM_024450741.1:c.-39G>A (ACADVL)	XP_024306509.1:n.-39G>A
XR_934021.2:n.21G>A (ACADVL)
XR_934022.2:n.21G>A (ACADVL)
XR_934023.2:n.21G>A (ACADVL)
NM_000018.4:c.-39G>A (ACADVL) MANE Select	NP_000009.1:n.-39G>A
NM_001033859.3:c.-39G>A (ACADVL)	NP_001029031.1:n.-39G>A
NM_001270447.2:c.132-176G>A (ACADVL)	NP_001257376.1:n.132-176G>A
NM_001270448.2:c.-342G>A (ACADVL)	NP_001257377.1:n.-342G>A