Canonical Allele Identifier: CA2573889339
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113896521_113896525del , CM000663.2:g.113896521_113896525del GRCh38
NC_000001.10:g.114439143_114439147del , CM000663.1:g.114439143_114439147del GRCh37
NC_000001.9:g.114240666_114240670del NCBI36
NG_031901.1:g.13595_13599del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.1078-60_1078-56del (AP4B1) ENSP00000358577.2:n.1078-60_1078-56del
ENST00000369567.6:c.799-60_799-56del (AP4B1) ENSP00000358580.1:n.799-60_799-56del
ENST00000369571.3:c.1303-60_1303-56del (AP4B1) ENSP00000358584.3:n.1303-60_1303-56del
ENST00000432415.6:c.799-60_799-56del (AP4B1) ENSP00000393622.2:n.799-60_799-56del
ENST00000460653.2:c.*373-60_*373-56del (AP4B1) ENSP00000518881.1:n.*373-60_*373-56del
ENST00000484201.6:c.*53-60_*53-56del (AP4B1) ENSP00000518883.1:n.*53-60_*53-56del
ENST00000489499.6:c.*645-60_*645-56del (AP4B1) ENSP00000518882.1:n.*645-60_*645-56del
ENST00000713588.1:c.*414-60_*414-56del (AP4B1) ENSP00000518880.1:n.*414-60_*414-56del
ENST00000713590.1:c.1303-60_1303-56del (AP4B1) ENSP00000518886.1:n.1303-60_1303-56del
ENST00000369569.6:c.1303-60_1303-56del (AP4B1) MANE Select ENSP00000358582.1:n.1303-60_1303-56del
ENST00000256658.8:c.1303-60_1303-56del (AP4B1) ENSP00000256658.4:n.1303-60_1303-56del
ENST00000369567.5:c.799-60_799-56del (AP4B1) ENSP00000358580.1:n.799-60_799-56del
ENST00000369569.5:c.1303-60_1303-56del (AP4B1) ENSP00000358582.1:n.1303-60_1303-56del
ENST00000462591.1:n.1415_1419del (AP4B1)
ENST00000479285.5:n.531-60_531-56del (AP4B1)
ENST00000479801.1:n.137-60_137-56del (AP4B1)
ENST00000484201.5:n.865-60_865-56del (AP4B1)
NM_001253852.1:c.1303-60_1303-56del (AP4B1) NP_001240781.1:n.1303-60_1303-56del
NM_001253852.2:c.1303-60_1303-56del (AP4B1) NP_001240781.1:n.1303-60_1303-56del
NM_001253853.1:c.1006-60_1006-56del (AP4B1) NP_001240782.1:n.1006-60_1006-56del
NM_001253853.2:c.1006-60_1006-56del (AP4B1) NP_001240782.1:n.1006-60_1006-56del
NM_001308312.1:c.799-60_799-56del (AP4B1) NP_001295241.1:n.799-60_799-56del
NM_006594.3:c.1303-60_1303-56del (AP4B1) NP_006585.2:n.1303-60_1303-56del
NM_006594.4:c.1303-60_1303-56del (AP4B1) NP_006585.2:n.1303-60_1303-56del
NR_037864.1:n.247-1347_247-1343del (AP4B1-AS1)
NR_125965.1:n.415-1347_415-1343del (AP4B1-AS1)
XM_005270381.2:c.1199-487_1199-483del (AP4B1) XP_005270438.1:n.1199-487_1199-483del
XM_011540523.1:c.1078-60_1078-56del (AP4B1) XP_011538825.1:n.1078-60_1078-56del
XM_011540524.1:c.1078-60_1078-56del (AP4B1) XP_011538826.1:n.1078-60_1078-56del
XM_011540525.1:c.1024-60_1024-56del (AP4B1) XP_011538827.1:n.1024-60_1024-56del
XM_011540527.1:c.685-60_685-56del (AP4B1) XP_011538829.1:n.685-60_685-56del
XM_011540528.1:c.328-60_328-56del (AP4B1) XP_011538830.1:n.328-60_328-56del
XR_246227.1:n.1485-487_1485-483del (AP4B1)
XM_011540523.3:c.1078-60_1078-56del (AP4B1) XP_011538825.1:n.1078-60_1078-56del
XM_011540525.3:c.1024-60_1024-56del (AP4B1) XP_011538827.1:n.1024-60_1024-56del
XM_017000089.2:c.1199-487_1199-483del (AP4B1) XP_016855578.1:n.1199-487_1199-483del
XM_017000090.1:c.799-60_799-56del (AP4B1) XP_016855579.1:n.799-60_799-56del
XM_017000091.2:c.920-487_920-483del (AP4B1) XP_016855580.1:n.920-487_920-483del
XM_017000092.2:c.328-60_328-56del (AP4B1) XP_016855581.1:n.328-60_328-56del
XM_024452422.1:c.1024-60_1024-56del (AP4B1) XP_024308190.1:n.1024-60_1024-56del
XM_024452423.1:c.1199-487_1199-483del (AP4B1) XP_024308191.1:n.1199-487_1199-483del
XM_024452435.1:c.974-487_974-483del (AP4B1) XP_024308203.1:n.974-487_974-483del
XM_024452441.1:c.695-487_695-483del (AP4B1) XP_024308209.1:n.695-487_695-483del
XR_001736928.2:n.1733-60_1733-56del (AP4B1)
XR_001736930.2:n.1877-60_1877-56del (AP4B1)
XR_002958805.1:n.1505-487_1505-483del (AP4B1)
XR_002958806.1:n.1774-60_1774-56del (AP4B1)
XR_002958807.1:n.1613-60_1613-56del (AP4B1)
NM_001253852.3:c.1303-60_1303-56del (AP4B1) MANE Select NP_001240781.1:n.1303-60_1303-56del
NM_001253853.3:c.1006-60_1006-56del (AP4B1) NP_001240782.1:n.1006-60_1006-56del
NM_001308312.2:c.799-60_799-56del (AP4B1) NP_001295241.1:n.799-60_799-56del
NM_006594.5:c.1303-60_1303-56del (AP4B1) NP_006585.2:n.1303-60_1303-56del