Linked Data
dbSNP Id:
rs773362488
ExAC:
17:7123193 GC / G
gnomAD v2:
17-7123193-GC-G
gnomAD v4:
17-7219874-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219877del , CM000679.2:g.7219877del | GRCh38 |
| NC_000017.10:g.7123196del , CM000679.1:g.7123196del | GRCh37 |
| NC_000017.9:g.7063920del | NCBI36 |
| NG_007975.1:g.5044del | |
| NG_008391.2:g.5176del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322910.9:c.-108del (ACADVL) | ENSP00000325395.5:n.-108del | |
| ENST00000350303.9:c.-108del (ACADVL) | ENSP00000344152.5:n.-108del | |
| ENST00000356839.9:c.-108del (ACADVL) | ENSP00000349297.5:n.-108del | |
| ENST00000543245.6:c.132-245del (ACADVL) | ENSP00000438689.2:n.132-245del | |
| ENST00000582356.5:n.18del (ACADVL) | ||
| ENST00000583312.5:c.-108del (ACADVL) | ENSP00000467920.1:n.-108del | |
| NM_000018.3:c.-108del (ACADVL) | NP_000009.1:n.-108del | |
| NM_001033859.2:c.-108del (ACADVL) | NP_001029031.1:n.-108del | |
| NM_001270447.1:c.132-245del (ACADVL) | NP_001257376.1:n.132-245del | |
| NM_001270448.1:c.-411del (ACADVL) | NP_001257377.1:n.-411del | |
| NM_001365.3:c.-1026del (DLG4) | NP_001356.1:n.-1026del | |
| NM_001321074.1:c.-1026del (DLG4) | NP_001308003.1:n.-1026del | |
| NM_001365.4:c.-1026del (DLG4) | NP_001356.1:n.-1026del | |
| NR_135527.1:n.176del (DLG4) | ||
| NM_001270447.2:c.132-245del (ACADVL) | NP_001257376.1:n.132-245del |