Canonical Allele Identifier: CA2635778216

Gene: ACADVL DLG4

Linked Data

• gnomAD v4: 17-7219889-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219889G>C , CM000679.2:g.7219889G>C	GRCh38
NC_000017.10:g.7123208G>C , CM000679.1:g.7123208G>C	GRCh37
NC_000017.9:g.7063932G>C	NCBI36
NG_007975.1:g.5056G>C
NG_008391.2:g.5162C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-96G>C (ACADVL)	ENSP00000325395.5:n.-96G>C
ENST00000350303.9:c.-96G>C (ACADVL)	ENSP00000344152.5:n.-96G>C
ENST00000356839.9:c.-96G>C (ACADVL)	ENSP00000349297.5:n.-96G>C
ENST00000543245.6:c.132-233G>C (ACADVL)	ENSP00000438689.2:n.132-233G>C
ENST00000578269.5:n.12G>C (ACADVL)
ENST00000579286.5:n.12G>C (ACADVL)
ENST00000582356.5:n.30G>C (ACADVL)
ENST00000583312.5:c.-96G>C (ACADVL)	ENSP00000467920.1:n.-96G>C
NM_000018.3:c.-96G>C (ACADVL)	NP_000009.1:n.-96G>C
NM_001033859.2:c.-96G>C (ACADVL)	NP_001029031.1:n.-96G>C
NM_001270447.1:c.132-233G>C (ACADVL)	NP_001257376.1:n.132-233G>C
NM_001270448.1:c.-399G>C (ACADVL)	NP_001257377.1:n.-399G>C
NM_001365.3:c.-1040C>G (DLG4)	NP_001356.1:n.-1040C>G
XM_006721516.2:c.-96G>C (ACADVL)	XP_006721579.2:n.-96G>C
XM_011523829.1:c.-96G>C (ACADVL)	XP_011522131.1:n.-96G>C
XM_011523830.1:c.-96G>C (ACADVL)	XP_011522132.1:n.-96G>C
XR_934021.1:n.12G>C (ACADVL)
XR_934022.1:n.12G>C (ACADVL)
XR_934023.1:n.12G>C (ACADVL)
NM_001321074.1:c.-1040C>G (DLG4)	NP_001308003.1:n.-1040C>G
NM_001365.4:c.-1040C>G (DLG4)	NP_001356.1:n.-1040C>G
NR_135527.1:n.162C>G (DLG4)
NM_001270447.2:c.132-233G>C (ACADVL)	NP_001257376.1:n.132-233G>C