Linked Data
dbSNP Id:
rs2071094555
gnomAD v3:
17-7219840-TCCCAGCA-T
gnomAD v4:
17-7219840-TCCCAGCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219841_7219847del , CM000679.2:g.7219841_7219847del | GRCh38 |
| NC_000017.10:g.7123160_7123166del , CM000679.1:g.7123160_7123166del | GRCh37 |
| NC_000017.9:g.7063884_7063890del | NCBI36 |
| NG_007975.1:g.5008_5014del | |
| NG_008391.2:g.5204_5210del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.9:c.-144_-138del (ACADVL) | ENSP00000349297.5:n.-144_-138del | |
| ENST00000543245.6:c.132-281_132-275del (ACADVL) | ENSP00000438689.2:n.132-281_132-275del | |
| NM_000018.3:c.-144_-138del (ACADVL) | NP_000009.1:n.-144_-138del | |
| NM_001033859.2:c.-144_-138del (ACADVL) | NP_001029031.1:n.-144_-138del | |
| NM_001270447.1:c.132-281_132-275del (ACADVL) | NP_001257376.1:n.132-281_132-275del | |
| NM_001270448.1:c.-447_-441del (ACADVL) | NP_001257377.1:n.-447_-441del | |
| NM_001365.3:c.-998_-992del (DLG4) | NP_001356.1:n.-998_-992del | |
| XM_005256489.2:c.-998_-992del (DLG4) | XP_005256546.1:n.-998_-992del | |
| XM_011523698.1:c.-998_-992del (DLG4) | XP_011522000.1:n.-998_-992del | |
| XR_243545.2:n.2_8del (DLG4) | ||
| XR_934005.1:n.2_8del (DLG4) | ||
| NM_001321074.1:c.-998_-992del (DLG4) | NP_001308003.1:n.-998_-992del | |
| NM_001365.4:c.-998_-992del (DLG4) | NP_001356.1:n.-998_-992del | |
| NR_135527.1:n.204_210del (DLG4) | ||
| NM_001270447.2:c.132-281_132-275del (ACADVL) | NP_001257376.1:n.132-281_132-275del |