Canonical Allele Identifier: CA2499224888

Gene: ACADVL DLG4

Linked Data

• ClinVar Variation Id: 1244924
• ClinVar RCV Id: RCV001649132
• dbSNP Id: rs1555527399

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219936_7219937insGGGCGTGCAGGACGA , CM000679.2:g.7219936_7219937insGGGCGTGCAGGACGA	GRCh38
NC_000017.10:g.7123255_7123256insGGGCGTGCAGGACGA , CM000679.1:g.7123255_7123256insGGGCGTGCAGGACGA	GRCh37
NC_000017.9:g.7063979_7063980insGGGCGTGCAGGACGA	NCBI36
NG_007975.1:g.5103_5104insGGGCGTGCAGGACGA
NG_008391.2:g.5114_5115insTCGTCCTGCACGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	ENSP00000325395.5:n.-49_-48insGGGCGTGCAGGACGA
ENST00000350303.9:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	ENSP00000344152.5:n.-49_-48insGGGCGTGCAGGACGA
ENST00000356839.9:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	ENSP00000349297.5:n.-49_-48insGGGCGTGCAGGACGA
ENST00000543245.6:c.132-186_132-185insGGGCGTGCAGGACGA (ACADVL)	ENSP00000438689.2:n.132-186_132-185insGGGCGTGCAGGACGA
ENST00000577191.5:n.29_30insGGGCGTGCAGGACGA (ACADVL)
ENST00000577857.5:n.42_43insGGGCGTGCAGGACGA (ACADVL)
ENST00000578269.5:n.59_60insGGGCGTGCAGGACGA (ACADVL)
ENST00000578421.1:n.11_12insGGGCGTGCAGGACGA (ACADVL)
ENST00000579286.5:n.59_60insGGGCGTGCAGGACGA (ACADVL)
ENST00000580263.5:n.42_43insGGGCGTGCAGGACGA (ACADVL)
ENST00000582056.5:n.42_43insGGGCGTGCAGGACGA (ACADVL)
ENST00000582356.5:n.77_78insGGGCGTGCAGGACGA (ACADVL)
ENST00000583312.5:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	ENSP00000467920.1:n.-49_-48insGGGCGTGCAGGACGA
ENST00000584103.5:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	ENSP00000465353.1:n.-49_-48insGGGCGTGCAGGACGA
NM_000018.3:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	NP_000009.1:n.-49_-48insGGGCGTGCAGGACGA
NM_001033859.2:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	NP_001029031.1:n.-49_-48insGGGCGTGCAGGACGA
NM_001270447.1:c.132-186_132-185insGGGCGTGCAGGACGA (ACADVL)	NP_001257376.1:n.132-186_132-185insGGGCGTGCAGGACGA
NM_001270448.1:c.-352_-351insGGGCGTGCAGGACGA (ACADVL)	NP_001257377.1:n.-352_-351insGGGCGTGCAGGACGA
NM_001365.3:c.-1088_-1087insTCGTCCTGCACGCCC (DLG4)	NP_001356.1:n.-1088_-1087insTCGTCCTGCACGCCC
XM_006721516.2:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	XP_006721579.2:n.-49_-48insGGGCGTGCAGGACGA
XM_011523829.1:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	XP_011522131.1:n.-49_-48insGGGCGTGCAGGACGA
XM_011523830.1:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	XP_011522132.1:n.-49_-48insGGGCGTGCAGGACGA
XR_934021.1:n.59_60insGGGCGTGCAGGACGA (ACADVL)
XR_934022.1:n.59_60insGGGCGTGCAGGACGA (ACADVL)
XR_934023.1:n.59_60insGGGCGTGCAGGACGA (ACADVL)
NM_001321074.1:c.-1088_-1087insTCGTCCTGCACGCCC (DLG4)	NP_001308003.1:n.-1088_-1087insTCGTCCTGCACGCCC
NM_001365.4:c.-1088_-1087insTCGTCCTGCACGCCC (DLG4)	NP_001356.1:n.-1088_-1087insTCGTCCTGCACGCCC
NR_135527.1:n.114_115insTCGTCCTGCACGCCC (DLG4)
XM_006721516.3:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	XP_006721579.2:n.-49_-48insGGGCGTGCAGGACGA
XM_011523829.2:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	XP_011522131.1:n.-49_-48insGGGCGTGCAGGACGA
XM_011523830.2:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	XP_011522132.1:n.-49_-48insGGGCGTGCAGGACGA
XM_024450741.1:c.-49_-48insGGGCGTGCAGGACGA (ACADVL)	XP_024306509.1:n.-49_-48insGGGCGTGCAGGACGA
XR_934021.2:n.11_12insGGGCGTGCAGGACGA (ACADVL)
XR_934022.2:n.11_12insGGGCGTGCAGGACGA (ACADVL)
XR_934023.2:n.11_12insGGGCGTGCAGGACGA (ACADVL)
NM_001270447.2:c.132-186_132-185insGGGCGTGCAGGACGA (ACADVL)	NP_001257376.1:n.132-186_132-185insGGGCGTGCAGGACGA