Linked Data
dbSNP Id:
rs755483414
ExAC:
1:114441386 CT / C
gnomAD v2:
1-114441386-CT-C
gnomAD v3:
1-113898764-CT-C
gnomAD v4:
1-113898764-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113898765del , CM000663.2:g.113898765del | GRCh38 |
| NC_000001.10:g.114441387del , CM000663.1:g.114441387del | GRCh37 |
| NC_000001.9:g.114242910del | NCBI36 |
| NG_031901.1:g.11355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.926del (AP4B1) | ENSP00000358577.2:p.Gln309ArgfsTer3 | |
| ENST00000369567.6:c.647del (AP4B1) | ENSP00000358580.1:p.Gln216ArgfsTer3 | |
| ENST00000369571.3:c.1151del (AP4B1) | ENSP00000358584.3:p.Gln384ArgfsTer3 | |
| ENST00000432415.6:c.647del (AP4B1) | ENSP00000393622.2:p.Gln216ArgfsTer3 | |
| ENST00000460653.2:c.*221del (AP4B1) | ENSP00000518881.1:n.*221del | |
| ENST00000484201.6:c.524-2del (AP4B1) | ENSP00000518883.1:n.524-2del | |
| ENST00000489499.6:c.*493del (AP4B1) | ENSP00000518882.1:n.*493del | |
| ENST00000713588.1:c.*262del (AP4B1) | ENSP00000518880.1:n.*262del | |
| ENST00000713590.1:c.1151del (AP4B1) | ENSP00000518886.1:p.Gln384ArgfsTer3 | |
| ENST00000369569.6:c.1151del (AP4B1) MANE Select | ENSP00000358582.1:p.Gln384ArgfsTer3 | |
| ENST00000256658.8:c.1151del (AP4B1) | ENSP00000256658.4:p.Gln384ArgfsTer3 | |
| ENST00000369567.5:c.647del (AP4B1) | ENSP00000358580.1:p.Gln216ArgfsTer3 | |
| ENST00000369569.5:c.1151del (AP4B1) | ENSP00000358582.1:p.Gln384ArgfsTer3 | |
| ENST00000479285.5:n.379del (AP4B1) | ||
| ENST00000484201.5:n.715-2del (AP4B1) | ||
| NM_001253852.1:c.1151del (AP4B1) | NP_001240781.1:p.Gln384ArgfsTer3 | |
| NM_001253852.2:c.1151del (AP4B1) | NP_001240781.1:p.Gln384ArgfsTer3 | |
| NM_001253853.1:c.854del (AP4B1) | NP_001240782.1:p.Gln285ArgfsTer3 | |
| NM_001253853.2:c.854del (AP4B1) | NP_001240782.1:p.Gln285ArgfsTer3 | |
| NM_001308312.1:c.647del (AP4B1) | NP_001295241.1:p.Gln216ArgfsTer3 | |
| NM_006594.3:c.1151del (AP4B1) | NP_006585.2:p.Gln384ArgfsTer3 | |
| NM_006594.4:c.1151del (AP4B1) | NP_006585.2:p.Gln384ArgfsTer3 | |
| NR_037864.1:n.368+776del (AP4B1-AS1) | ||
| NR_125965.1:n.536+776del (AP4B1-AS1) | ||
| XM_005270381.2:c.1151del (AP4B1) | XP_005270438.1:p.Gln384ArgfsTer3 | |
| XM_005270382.3:c.1151del (AP4B1) | XP_005270439.1:p.Gln384ArgfsTer3 | |
| XM_011540523.1:c.926del (AP4B1) | XP_011538825.1:p.Gln309ArgfsTer3 | |
| XM_011540524.1:c.926del (AP4B1) | XP_011538826.1:p.Gln309ArgfsTer3 | |
| XM_011540525.1:c.872del (AP4B1) | XP_011538827.1:p.Gln291ArgfsTer3 | |
| XM_011540527.1:c.533del (AP4B1) | XP_011538829.1:p.Gln178ArgfsTer3 | |
| XM_011540528.1:c.176del (AP4B1) | XP_011538830.1:p.Gln59ArgfsTer3 | |
| XR_246227.1:n.1333del (AP4B1) | ||
| XR_246228.2:n.1561del (AP4B1) | ||
| XM_011540523.3:c.926del (AP4B1) | XP_011538825.1:p.Gln309ArgfsTer3 | |
| XM_011540525.3:c.872del (AP4B1) | XP_011538827.1:p.Gln291ArgfsTer3 | |
| XM_017000089.2:c.1151del (AP4B1) | XP_016855578.1:p.Gln384ArgfsTer3 | |
| XM_017000090.1:c.647del (AP4B1) | XP_016855579.1:p.Gln216ArgfsTer3 | |
| XM_017000091.2:c.872del (AP4B1) | XP_016855580.1:p.Gln291ArgfsTer3 | |
| XM_017000092.2:c.176del (AP4B1) | XP_016855581.1:p.Gln59ArgfsTer3 | |
| XM_017000093.2:c.1151del (AP4B1) | XP_016855582.1:p.Gln384ArgfsTer3 | |
| XM_024452422.1:c.872del (AP4B1) | XP_024308190.1:p.Gln291ArgfsTer3 | |
| XM_024452423.1:c.1151del (AP4B1) | XP_024308191.1:p.Gln384ArgfsTer3 | |
| XM_024452435.1:c.926del (AP4B1) | XP_024308203.1:p.Gln309ArgfsTer3 | |
| XM_024452441.1:c.647del (AP4B1) | XP_024308209.1:p.Gln216ArgfsTer3 | |
| XR_001736928.2:n.1581del (AP4B1) | ||
| XR_001736930.2:n.1622del (AP4B1) | ||
| XR_002958805.1:n.1353del (AP4B1) | ||
| XR_002958806.1:n.1622del (AP4B1) | ||
| XR_002958807.1:n.1461del (AP4B1) | ||
| NM_001253852.3:c.1151del (AP4B1) MANE Select | NP_001240781.1:p.Gln384ArgfsTer3 | |
| NM_001253853.3:c.854del (AP4B1) | NP_001240782.1:p.Gln285ArgfsTer3 | |
| NM_001308312.2:c.647del (AP4B1) | NP_001295241.1:p.Gln216ArgfsTer3 | |
| NM_006594.5:c.1151del (AP4B1) | NP_006585.2:p.Gln384ArgfsTer3 |