Linked Data
dbSNP Id:
rs756798696
gnomAD v2:
17-7123245-G-GTGCAGGACGCGGGCC
gnomAD v3:
17-7219926-G-GTGCAGGACGCGGGCC
gnomAD v4:
17-7219926-G-GTGCAGGACGCGGGCC
MyVariant Identifiers:
chr17:g.7123245_7123246insTGCAGGACGCGGGCC (hg19)
chr17:g.7219926_7219927insTGCAGGACGCGGGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219936_7219937insGGGCCTGCAGGACGC , CM000679.2:g.7219936_7219937insGGGCCTGCAGGACGC | GRCh38 |
| NC_000017.10:g.7123255_7123256insGGGCCTGCAGGACGC , CM000679.1:g.7123255_7123256insGGGCCTGCAGGACGC | GRCh37 |
| NC_000017.9:g.7063979_7063980insGGGCCTGCAGGACGC | NCBI36 |
| NG_007975.1:g.5103_5104insGGGCCTGCAGGACGC | |
| NG_008391.2:g.5124_5125insGGCCCGCGTCCTGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322910.9:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | ENSP00000325395.5:n.-49_-48insGGGCCTGCAGGACGC | |
| ENST00000350303.9:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | ENSP00000344152.5:n.-49_-48insGGGCCTGCAGGACGC | |
| ENST00000356839.9:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | ENSP00000349297.5:n.-49_-48insGGGCCTGCAGGACGC | |
| ENST00000543245.6:c.132-186_132-185insGGGCCTGCAGGACGC (ACADVL) | ENSP00000438689.2:n.132-186_132-185insGGGCCTGCAGGACGC | |
| ENST00000577191.5:n.29_30insGGGCCTGCAGGACGC (ACADVL) | ||
| ENST00000577857.5:n.42_43insGGGCCTGCAGGACGC (ACADVL) | ||
| ENST00000578269.5:n.59_60insGGGCCTGCAGGACGC (ACADVL) | ||
| ENST00000578421.1:n.11_12insGGGCCTGCAGGACGC (ACADVL) | ||
| ENST00000579286.5:n.59_60insGGGCCTGCAGGACGC (ACADVL) | ||
| ENST00000580263.5:n.42_43insGGGCCTGCAGGACGC (ACADVL) | ||
| ENST00000582056.5:n.42_43insGGGCCTGCAGGACGC (ACADVL) | ||
| ENST00000582356.5:n.77_78insGGGCCTGCAGGACGC (ACADVL) | ||
| ENST00000583312.5:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | ENSP00000467920.1:n.-49_-48insGGGCCTGCAGGACGC | |
| ENST00000584103.5:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | ENSP00000465353.1:n.-49_-48insGGGCCTGCAGGACGC | |
| NM_000018.3:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | NP_000009.1:n.-49_-48insGGGCCTGCAGGACGC | |
| NM_001033859.2:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | NP_001029031.1:n.-49_-48insGGGCCTGCAGGACGC | |
| NM_001270447.1:c.132-186_132-185insGGGCCTGCAGGACGC (ACADVL) | NP_001257376.1:n.132-186_132-185insGGGCCTGCAGGACGC | |
| NM_001270448.1:c.-352_-351insGGGCCTGCAGGACGC (ACADVL) | NP_001257377.1:n.-352_-351insGGGCCTGCAGGACGC | |
| NM_001365.3:c.-1078_-1077insGGCCCGCGTCCTGCA (DLG4) | NP_001356.1:n.-1078_-1077insGGCCCGCGTCCTGCA | |
| XM_006721516.2:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | XP_006721579.2:n.-49_-48insGGGCCTGCAGGACGC | |
| XM_011523829.1:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | XP_011522131.1:n.-49_-48insGGGCCTGCAGGACGC | |
| XM_011523830.1:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | XP_011522132.1:n.-49_-48insGGGCCTGCAGGACGC | |
| XR_934021.1:n.59_60insGGGCCTGCAGGACGC (ACADVL) | ||
| XR_934022.1:n.59_60insGGGCCTGCAGGACGC (ACADVL) | ||
| XR_934023.1:n.59_60insGGGCCTGCAGGACGC (ACADVL) | ||
| NM_001321074.1:c.-1078_-1077insGGCCCGCGTCCTGCA (DLG4) | NP_001308003.1:n.-1078_-1077insGGCCCGCGTCCTGCA | |
| NM_001365.4:c.-1078_-1077insGGCCCGCGTCCTGCA (DLG4) | NP_001356.1:n.-1078_-1077insGGCCCGCGTCCTGCA | |
| NR_135527.1:n.124_125insGGCCCGCGTCCTGCA (DLG4) | ||
| XM_006721516.3:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | XP_006721579.2:n.-49_-48insGGGCCTGCAGGACGC | |
| XM_011523829.2:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | XP_011522131.1:n.-49_-48insGGGCCTGCAGGACGC | |
| XM_011523830.2:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | XP_011522132.1:n.-49_-48insGGGCCTGCAGGACGC | |
| XM_024450741.1:c.-49_-48insGGGCCTGCAGGACGC (ACADVL) | XP_024306509.1:n.-49_-48insGGGCCTGCAGGACGC | |
| XR_934021.2:n.11_12insGGGCCTGCAGGACGC (ACADVL) | ||
| XR_934022.2:n.11_12insGGGCCTGCAGGACGC (ACADVL) | ||
| XR_934023.2:n.11_12insGGGCCTGCAGGACGC (ACADVL) | ||
| NM_001270447.2:c.132-186_132-185insGGGCCTGCAGGACGC (ACADVL) | NP_001257376.1:n.132-186_132-185insGGGCCTGCAGGACGC |