Canonical Allele Identifier: CA8337488

Gene: ACADVL DLG4

Linked Data

• dbSNP Id: rs756798696
• ExAC: 17:7123245 G / GTGCAGGACGCGGGCA
• gnomAD v2: 17-7123245-G-GTGCAGGACGCGGGCA
• gnomAD v4: 17-7219926-G-GTGCAGGACGCGGGCA
• MyVariant Identifiers: chr17:g.7123245_7123246insTGCAGGACGCGGGCA (hg19) ; chr17:g.7219926_7219927insTGCAGGACGCGGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219936_7219937insGGGCATGCAGGACGC , CM000679.2:g.7219936_7219937insGGGCATGCAGGACGC	GRCh38
NC_000017.10:g.7123255_7123256insGGGCATGCAGGACGC , CM000679.1:g.7123255_7123256insGGGCATGCAGGACGC	GRCh37
NC_000017.9:g.7063979_7063980insGGGCATGCAGGACGC	NCBI36
NG_007975.1:g.5103_5104insGGGCATGCAGGACGC
NG_008391.2:g.5124_5125insTGCCCGCGTCCTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	ENSP00000325395.5:n.-49_-48insGGGCATGCAGGACGC
ENST00000350303.9:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	ENSP00000344152.5:n.-49_-48insGGGCATGCAGGACGC
ENST00000356839.9:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	ENSP00000349297.5:n.-49_-48insGGGCATGCAGGACGC
ENST00000543245.6:c.132-186_132-185insGGGCATGCAGGACGC (ACADVL)	ENSP00000438689.2:n.132-186_132-185insGGGCATGCAGGACGC
ENST00000577191.5:n.29_30insGGGCATGCAGGACGC (ACADVL)
ENST00000577857.5:n.42_43insGGGCATGCAGGACGC (ACADVL)
ENST00000578269.5:n.59_60insGGGCATGCAGGACGC (ACADVL)
ENST00000578421.1:n.11_12insGGGCATGCAGGACGC (ACADVL)
ENST00000579286.5:n.59_60insGGGCATGCAGGACGC (ACADVL)
ENST00000580263.5:n.42_43insGGGCATGCAGGACGC (ACADVL)
ENST00000582056.5:n.42_43insGGGCATGCAGGACGC (ACADVL)
ENST00000582356.5:n.77_78insGGGCATGCAGGACGC (ACADVL)
ENST00000583312.5:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	ENSP00000467920.1:n.-49_-48insGGGCATGCAGGACGC
ENST00000584103.5:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	ENSP00000465353.1:n.-49_-48insGGGCATGCAGGACGC
NM_000018.3:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	NP_000009.1:n.-49_-48insGGGCATGCAGGACGC
NM_001033859.2:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	NP_001029031.1:n.-49_-48insGGGCATGCAGGACGC
NM_001270447.1:c.132-186_132-185insGGGCATGCAGGACGC (ACADVL)	NP_001257376.1:n.132-186_132-185insGGGCATGCAGGACGC
NM_001270448.1:c.-352_-351insGGGCATGCAGGACGC (ACADVL)	NP_001257377.1:n.-352_-351insGGGCATGCAGGACGC
NM_001365.3:c.-1078_-1077insTGCCCGCGTCCTGCA (DLG4)	NP_001356.1:n.-1078_-1077insTGCCCGCGTCCTGCA
XM_006721516.2:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	XP_006721579.2:n.-49_-48insGGGCATGCAGGACGC
XM_011523829.1:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	XP_011522131.1:n.-49_-48insGGGCATGCAGGACGC
XM_011523830.1:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	XP_011522132.1:n.-49_-48insGGGCATGCAGGACGC
XR_934021.1:n.59_60insGGGCATGCAGGACGC (ACADVL)
XR_934022.1:n.59_60insGGGCATGCAGGACGC (ACADVL)
XR_934023.1:n.59_60insGGGCATGCAGGACGC (ACADVL)
NM_001321074.1:c.-1078_-1077insTGCCCGCGTCCTGCA (DLG4)	NP_001308003.1:n.-1078_-1077insTGCCCGCGTCCTGCA
NM_001365.4:c.-1078_-1077insTGCCCGCGTCCTGCA (DLG4)	NP_001356.1:n.-1078_-1077insTGCCCGCGTCCTGCA
NR_135527.1:n.124_125insTGCCCGCGTCCTGCA (DLG4)
XM_006721516.3:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	XP_006721579.2:n.-49_-48insGGGCATGCAGGACGC
XM_011523829.2:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	XP_011522131.1:n.-49_-48insGGGCATGCAGGACGC
XM_011523830.2:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	XP_011522132.1:n.-49_-48insGGGCATGCAGGACGC
XM_024450741.1:c.-49_-48insGGGCATGCAGGACGC (ACADVL)	XP_024306509.1:n.-49_-48insGGGCATGCAGGACGC
XR_934021.2:n.11_12insGGGCATGCAGGACGC (ACADVL)
XR_934022.2:n.11_12insGGGCATGCAGGACGC (ACADVL)
XR_934023.2:n.11_12insGGGCATGCAGGACGC (ACADVL)
NM_001270447.2:c.132-186_132-185insGGGCATGCAGGACGC (ACADVL)	NP_001257376.1:n.132-186_132-185insGGGCATGCAGGACGC