Canonical Allele Identifier: CA2635778103

Gene: ACADVL DLG4

Linked Data

• gnomAD v4: 17-7219856-G-C

Genomic Alleles

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

Transcript Alleles

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