Canonical Allele Identifier: CA2635778061

Gene: ACADVL DLG4

Linked Data

• gnomAD v4: 17-7219845-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219845G>T , CM000679.2:g.7219845G>T	GRCh38
NC_000017.10:g.7123164G>T , CM000679.1:g.7123164G>T	GRCh37
NC_000017.9:g.7063888G>T	NCBI36
NG_007975.1:g.5012G>T
NG_008391.2:g.5206C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-140G>T (ACADVL)	ENSP00000325395.5:n.-140G>T
ENST00000356839.9:c.-140G>T (ACADVL)	ENSP00000349297.5:n.-140G>T
ENST00000543245.6:c.132-277G>T (ACADVL)	ENSP00000438689.2:n.132-277G>T
NM_000018.3:c.-140G>T (ACADVL)	NP_000009.1:n.-140G>T
NM_001033859.2:c.-140G>T (ACADVL)	NP_001029031.1:n.-140G>T
NM_001270447.1:c.132-277G>T (ACADVL)	NP_001257376.1:n.132-277G>T
NM_001270448.1:c.-443G>T (ACADVL)	NP_001257377.1:n.-443G>T
NM_001365.3:c.-996C>A (DLG4)	NP_001356.1:n.-996C>A
XM_005256489.2:c.-996C>A (DLG4)	XP_005256546.1:n.-996C>A
XM_011523698.1:c.-996C>A (DLG4)	XP_011522000.1:n.-996C>A
XR_243545.2:n.4C>A (DLG4)
XR_934005.1:n.4C>A (DLG4)
NM_001321074.1:c.-996C>A (DLG4)	NP_001308003.1:n.-996C>A
NM_001365.4:c.-996C>A (DLG4)	NP_001356.1:n.-996C>A
NR_135527.1:n.206C>A (DLG4)
NM_001270447.2:c.132-277G>T (ACADVL)	NP_001257376.1:n.132-277G>T