Canonical Allele Identifier: CA2576147631

Gene: ACADVL DLG4

Linked Data

• gnomAD v4: 17-7219861-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219861G>A , CM000679.2:g.7219861G>A	GRCh38
NC_000017.10:g.7123180G>A , CM000679.1:g.7123180G>A	GRCh37
NC_000017.9:g.7063904G>A	NCBI36
NG_007975.1:g.5028G>A
NG_008391.2:g.5190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-124G>A (ACADVL)	ENSP00000325395.5:n.-124G>A
ENST00000356839.9:c.-124G>A (ACADVL)	ENSP00000349297.5:n.-124G>A
ENST00000543245.6:c.132-261G>A (ACADVL)	ENSP00000438689.2:n.132-261G>A
ENST00000582356.5:n.2G>A (ACADVL)
ENST00000583312.5:c.-124G>A (ACADVL)	ENSP00000467920.1:n.-124G>A
NM_000018.3:c.-124G>A (ACADVL)	NP_000009.1:n.-124G>A
NM_001033859.2:c.-124G>A (ACADVL)	NP_001029031.1:n.-124G>A
NM_001270447.1:c.132-261G>A (ACADVL)	NP_001257376.1:n.132-261G>A
NM_001270448.1:c.-427G>A (ACADVL)	NP_001257377.1:n.-427G>A
NM_001365.3:c.-1012C>T (DLG4)	NP_001356.1:n.-1012C>T
NM_001321074.1:c.-1012C>T (DLG4)	NP_001308003.1:n.-1012C>T
NM_001365.4:c.-1012C>T (DLG4)	NP_001356.1:n.-1012C>T
NR_135527.1:n.190C>T (DLG4)
NM_001270447.2:c.132-261G>A (ACADVL)	NP_001257376.1:n.132-261G>A