Canonical Allele Identifier: CA2732929483

Linked Data

dbSNP Id: rs753389263

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219936_7219937insAGGCGTGCAGGACGC , CM000679.2:g.7219936_7219937insAGGCGTGCAGGACGC GRCh38
NC_000017.10:g.7123255_7123256insAGGCGTGCAGGACGC , CM000679.1:g.7123255_7123256insAGGCGTGCAGGACGC GRCh37
NC_000017.9:g.7063979_7063980insAGGCGTGCAGGACGC NCBI36
NG_007975.1:g.5103_5104insAGGCGTGCAGGACGC
NG_008391.2:g.5128_5129insTGCGTCCTGCACGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-49_-48insAGGCGTGCAGGACGC (ACADVL) ENSP00000325395.5:n.-49_-48insAGGCGTGCAGGACGC
ENST00000350303.9:c.-49_-48insAGGCGTGCAGGACGC (ACADVL) ENSP00000344152.5:n.-49_-48insAGGCGTGCAGGACGC
ENST00000356839.9:c.-49_-48insAGGCGTGCAGGACGC (ACADVL) ENSP00000349297.5:n.-49_-48insAGGCGTGCAGGACGC
ENST00000543245.6:c.132-186_132-185insAGGCGTGCAGGACGC (ACADVL) ENSP00000438689.2:n.132-186_132-185insAGGCGTGCAGGACGC
ENST00000577191.5:n.29_30insAGGCGTGCAGGACGC (ACADVL)
ENST00000577857.5:n.42_43insAGGCGTGCAGGACGC (ACADVL)
ENST00000578269.5:n.59_60insAGGCGTGCAGGACGC (ACADVL)
ENST00000579286.5:n.59_60insAGGCGTGCAGGACGC (ACADVL)
ENST00000580263.5:n.42_43insAGGCGTGCAGGACGC (ACADVL)
ENST00000582056.5:n.42_43insAGGCGTGCAGGACGC (ACADVL)
ENST00000582356.5:n.77_78insAGGCGTGCAGGACGC (ACADVL)
ENST00000583312.5:c.-49_-48insAGGCGTGCAGGACGC (ACADVL) ENSP00000467920.1:n.-49_-48insAGGCGTGCAGGACGC
ENST00000584103.5:c.-49_-48insAGGCGTGCAGGACGC (ACADVL) ENSP00000465353.1:n.-49_-48insAGGCGTGCAGGACGC
NM_000018.3:c.-49_-48insAGGCGTGCAGGACGC (ACADVL) NP_000009.1:n.-49_-48insAGGCGTGCAGGACGC
NM_001033859.2:c.-49_-48insAGGCGTGCAGGACGC (ACADVL) NP_001029031.1:n.-49_-48insAGGCGTGCAGGACGC
NM_001270447.1:c.132-186_132-185insAGGCGTGCAGGACGC (ACADVL) NP_001257376.1:n.132-186_132-185insAGGCGTGCAGGACGC
NM_001270448.1:c.-352_-351insAGGCGTGCAGGACGC (ACADVL) NP_001257377.1:n.-352_-351insAGGCGTGCAGGACGC
NM_001365.3:c.-1074_-1073insTGCGTCCTGCACGCC (DLG4) NP_001356.1:n.-1074_-1073insTGCGTCCTGCACGCC
XM_006721516.2:c.-49_-48insAGGCGTGCAGGACGC (ACADVL) XP_006721579.2:n.-49_-48insAGGCGTGCAGGACGC
XM_011523829.1:c.-49_-48insAGGCGTGCAGGACGC (ACADVL) XP_011522131.1:n.-49_-48insAGGCGTGCAGGACGC
XM_011523830.1:c.-49_-48insAGGCGTGCAGGACGC (ACADVL) XP_011522132.1:n.-49_-48insAGGCGTGCAGGACGC
XR_934021.1:n.59_60insAGGCGTGCAGGACGC (ACADVL)
XR_934022.1:n.59_60insAGGCGTGCAGGACGC (ACADVL)
XR_934023.1:n.59_60insAGGCGTGCAGGACGC (ACADVL)
NM_001321074.1:c.-1074_-1073insTGCGTCCTGCACGCC (DLG4) NP_001308003.1:n.-1074_-1073insTGCGTCCTGCACGCC
NM_001365.4:c.-1074_-1073insTGCGTCCTGCACGCC (DLG4) NP_001356.1:n.-1074_-1073insTGCGTCCTGCACGCC
NR_135527.1:n.128_129insTGCGTCCTGCACGCC (DLG4)
NM_001270447.2:c.132-186_132-185insAGGCGTGCAGGACGC (ACADVL) NP_001257376.1:n.132-186_132-185insAGGCGTGCAGGACGC