Canonical Allele Identifier: CA2534866423

Gene: ACADVL DLG4

Linked Data

• gnomAD v4: 17-7219851-C-CCCGGGGCCCGCAACCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219855_7219871dup , CM000679.2:g.7219855_7219871dup	GRCh38
NC_000017.10:g.7123174_7123190dup , CM000679.1:g.7123174_7123190dup	GRCh37
NC_000017.9:g.7063898_7063914dup	NCBI36
NG_007975.1:g.5022_5038dup
NG_008391.2:g.5183_5199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-130_-114dup (ACADVL)	ENSP00000325395.5:n.-130_-114dup
ENST00000356839.9:c.-130_-114dup (ACADVL)	ENSP00000349297.5:n.-130_-114dup
ENST00000543245.6:c.132-267_132-251dup (ACADVL)	ENSP00000438689.2:n.132-267_132-251dup
NM_000018.3:c.-130_-114dup (ACADVL)	NP_000009.1:n.-130_-114dup
NM_001033859.2:c.-130_-114dup (ACADVL)	NP_001029031.1:n.-130_-114dup
NM_001270447.1:c.132-267_132-251dup (ACADVL)	NP_001257376.1:n.132-267_132-251dup
NM_001270448.1:c.-433_-417dup (ACADVL)	NP_001257377.1:n.-433_-417dup
NM_001365.3:c.-1019_-1003dup (DLG4)	NP_001356.1:n.-1019_-1003dup
NM_001321074.1:c.-1019_-1003dup (DLG4)	NP_001308003.1:n.-1019_-1003dup
NM_001365.4:c.-1019_-1003dup (DLG4)	NP_001356.1:n.-1019_-1003dup
NR_135527.1:n.183_199dup (DLG4)
NM_001270447.2:c.132-267_132-251dup (ACADVL)	NP_001257376.1:n.132-267_132-251dup