Linked Data
dbSNP Id:
rs1422177528
gnomAD v2:
17-7123144-C-CCAGG
gnomAD v3:
17-7219825-C-CCAGG
gnomAD v4:
17-7219825-C-CCAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219826_7219829dup , CM000679.2:g.7219826_7219829dup | GRCh38 |
| NC_000017.10:g.7123145_7123148dup , CM000679.1:g.7123145_7123148dup | GRCh37 |
| NC_000017.9:g.7063869_7063872dup | NCBI36 |
| NG_007975.1:g.4993_4996dup | |
| NG_008391.2:g.5222_5225dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399510.8:c.-980_-977dup (DLG4) | ENSP00000382428.3:n.-980_-977dup | |
| ENST00000648172.8:c.-980_-977dup (DLG4) | ENSP00000497806.3:n.-980_-977dup | |
| ENST00000356839.9:c.-159_-156dup (ACADVL) | ENSP00000349297.5:n.-159_-156dup | |
| ENST00000543245.6:c.132-296_132-293dup (ACADVL) | ENSP00000438689.2:n.132-296_132-293dup | |
| NM_001270447.1:c.132-296_132-293dup (ACADVL) | NP_001257376.1:n.132-296_132-293dup | |
| NM_001365.3:c.-980_-977dup (DLG4) | NP_001356.1:n.-980_-977dup | |
| XM_005256489.2:c.-980_-977dup (DLG4) | XP_005256546.1:n.-980_-977dup | |
| XM_011523698.1:c.-980_-977dup (DLG4) | XP_011522000.1:n.-980_-977dup | |
| XR_243545.2:n.20_23dup (DLG4) | ||
| XR_934005.1:n.20_23dup (DLG4) | ||
| NM_001321074.1:c.-980_-977dup (DLG4) | NP_001308003.1:n.-980_-977dup | |
| NM_001365.4:c.-980_-977dup (DLG4) | NP_001356.1:n.-980_-977dup | |
| NR_135527.1:n.222_225dup (DLG4) | ||
| XR_934005.2:n.14_17dup (DLG4) | ||
| NM_001270447.2:c.132-296_132-293dup (ACADVL) | NP_001257376.1:n.132-296_132-293dup |