Canonical Allele Identifier: CA2245697215

Gene: ACADVL DLG4

Linked Data

• dbSNP Id: rs1567559024
• gnomAD v4: 17-7219856-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219856G>A , CM000679.2:g.7219856G>A	GRCh38
NC_000017.10:g.7123175G>A , CM000679.1:g.7123175G>A	GRCh37
NC_000017.9:g.7063899G>A	NCBI36
NG_007975.1:g.5023G>A
NG_008391.2:g.5195C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-129G>A (ACADVL)	ENSP00000325395.5:n.-129G>A
ENST00000356839.9:c.-129G>A (ACADVL)	ENSP00000349297.5:n.-129G>A
ENST00000543245.6:c.132-266G>A (ACADVL)	ENSP00000438689.2:n.132-266G>A
NM_000018.3:c.-129G>A (ACADVL)	NP_000009.1:n.-129G>A
NM_001033859.2:c.-129G>A (ACADVL)	NP_001029031.1:n.-129G>A
NM_001270447.1:c.132-266G>A (ACADVL)	NP_001257376.1:n.132-266G>A
NM_001270448.1:c.-432G>A (ACADVL)	NP_001257377.1:n.-432G>A
NM_001365.3:c.-1007C>T (DLG4)	NP_001356.1:n.-1007C>T
NM_001321074.1:c.-1007C>T (DLG4)	NP_001308003.1:n.-1007C>T
NM_001365.4:c.-1007C>T (DLG4)	NP_001356.1:n.-1007C>T
NR_135527.1:n.195C>T (DLG4)
NM_001270447.2:c.132-266G>A (ACADVL)	NP_001257376.1:n.132-266G>A