Canonical Allele Identifier: CA2635778083

Gene: ACADVL DLG4

Linked Data

• gnomAD v4: 17-7219853-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219853C>G , CM000679.2:g.7219853C>G	GRCh38
NC_000017.10:g.7123172C>G , CM000679.1:g.7123172C>G	GRCh37
NC_000017.9:g.7063896C>G	NCBI36
NG_007975.1:g.5020C>G
NG_008391.2:g.5198G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-132C>G (ACADVL)	ENSP00000325395.5:n.-132C>G
ENST00000356839.9:c.-132C>G (ACADVL)	ENSP00000349297.5:n.-132C>G
ENST00000543245.6:c.132-269C>G (ACADVL)	ENSP00000438689.2:n.132-269C>G
NM_000018.3:c.-132C>G (ACADVL)	NP_000009.1:n.-132C>G
NM_001033859.2:c.-132C>G (ACADVL)	NP_001029031.1:n.-132C>G
NM_001270447.1:c.132-269C>G (ACADVL)	NP_001257376.1:n.132-269C>G
NM_001270448.1:c.-435C>G (ACADVL)	NP_001257377.1:n.-435C>G
NM_001365.3:c.-1004G>C (DLG4)	NP_001356.1:n.-1004G>C
NM_001321074.1:c.-1004G>C (DLG4)	NP_001308003.1:n.-1004G>C
NM_001365.4:c.-1004G>C (DLG4)	NP_001356.1:n.-1004G>C
NR_135527.1:n.198G>C (DLG4)
NM_001270447.2:c.132-269C>G (ACADVL)	NP_001257376.1:n.132-269C>G