Canonical Allele Identifier: CA1189945987
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113896123_113896126delinsTGAA , CM000663.2:g.113896123_113896126delinsTGAA GRCh38
NC_000001.10:g.114438745_114438748delinsTGAA , CM000663.1:g.114438745_114438748delinsTGAA GRCh37
NC_000001.9:g.114240268_114240271delinsTGAA NCBI36
NG_031901.1:g.13994_13997delinsTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.1286-88_1286-85delinsTTCA (AP4B1) ENSP00000358577.2:n.1286-88_1286-85delinsTTCA
ENST00000369567.6:c.1007-88_1007-85delinsTTCA (AP4B1) ENSP00000358580.1:n.1007-88_1007-85delinsTTCA
ENST00000369571.3:c.1511-88_1511-85delinsTTCA (AP4B1) ENSP00000358584.3:n.1511-88_1511-85delinsTTCA
ENST00000432415.6:c.1007-88_1007-85delinsTTCA (AP4B1) ENSP00000393622.2:n.1007-88_1007-85delinsTTCA
ENST00000460653.2:c.*581-88_*581-85delinsTTCA (AP4B1) ENSP00000518881.1:n.*581-88_*581-85delinsTTCA
ENST00000484201.6:c.*261-88_*261-85delinsTTCA (AP4B1) ENSP00000518883.1:n.*261-88_*261-85delinsTTCA
ENST00000489499.6:c.*853-88_*853-85delinsTTCA (AP4B1) ENSP00000518882.1:n.*853-88_*853-85delinsTTCA
ENST00000713588.1:c.*622-88_*622-85delinsTTCA (AP4B1) ENSP00000518880.1:n.*622-88_*622-85delinsTTCA
ENST00000713590.1:c.1511-88_1511-85delinsTTCA (AP4B1) ENSP00000518886.1:n.1511-88_1511-85delinsTTCA
ENST00000369569.6:c.1511-88_1511-85delinsTTCA (AP4B1) MANE Select ENSP00000358582.1:n.1511-88_1511-85delinsTTCA
ENST00000256658.8:c.1511-88_1511-85delinsTTCA (AP4B1) ENSP00000256658.4:n.1511-88_1511-85delinsTTCA
ENST00000369567.5:c.1007-88_1007-85delinsTTCA (AP4B1) ENSP00000358580.1:n.1007-88_1007-85delinsTTCA
ENST00000369569.5:c.1511-88_1511-85delinsTTCA (AP4B1) ENSP00000358582.1:n.1511-88_1511-85delinsTTCA
ENST00000462591.1:n.1683-88_1683-85delinsTTCA (AP4B1)
ENST00000479285.5:n.870_873delinsTTCA (AP4B1)
ENST00000479801.1:n.476_479delinsTTCA (AP4B1)
NM_001253852.1:c.1511-88_1511-85delinsTTCA (AP4B1) NP_001240781.1:n.1511-88_1511-85delinsTTCA
NM_001253852.2:c.1511-88_1511-85delinsTTCA (AP4B1) NP_001240781.1:n.1511-88_1511-85delinsTTCA
NM_001253853.1:c.1214-88_1214-85delinsTTCA (AP4B1) NP_001240782.1:n.1214-88_1214-85delinsTTCA
NM_001253853.2:c.1214-88_1214-85delinsTTCA (AP4B1) NP_001240782.1:n.1214-88_1214-85delinsTTCA
NM_001308312.1:c.1007-88_1007-85delinsTTCA (AP4B1) NP_001295241.1:n.1007-88_1007-85delinsTTCA
NM_006594.3:c.1511-88_1511-85delinsTTCA (AP4B1) NP_006585.2:n.1511-88_1511-85delinsTTCA
NM_006594.4:c.1511-88_1511-85delinsTTCA (AP4B1) NP_006585.2:n.1511-88_1511-85delinsTTCA
NR_037864.1:n.247-1745_247-1742delinsTGAA (AP4B1-AS1)
NR_125965.1:n.415-1745_415-1742delinsTGAA (AP4B1-AS1)
XM_005270381.2:c.1199-88_1199-85delinsTTCA (AP4B1) XP_005270438.1:n.1199-88_1199-85delinsTTCA
XM_011540523.1:c.1286-88_1286-85delinsTTCA (AP4B1) XP_011538825.1:n.1286-88_1286-85delinsTTCA
XM_011540524.1:c.1286-88_1286-85delinsTTCA (AP4B1) XP_011538826.1:n.1286-88_1286-85delinsTTCA
XM_011540525.1:c.1232-88_1232-85delinsTTCA (AP4B1) XP_011538827.1:n.1232-88_1232-85delinsTTCA
XM_011540527.1:c.893-88_893-85delinsTTCA (AP4B1) XP_011538829.1:n.893-88_893-85delinsTTCA
XM_011540528.1:c.536-88_536-85delinsTTCA (AP4B1) XP_011538830.1:n.536-88_536-85delinsTTCA
XR_246227.1:n.1485-88_1485-85delinsTTCA (AP4B1)
XM_011540523.3:c.1286-88_1286-85delinsTTCA (AP4B1) XP_011538825.1:n.1286-88_1286-85delinsTTCA
XM_011540525.3:c.1232-88_1232-85delinsTTCA (AP4B1) XP_011538827.1:n.1232-88_1232-85delinsTTCA
XM_017000089.2:c.1199-88_1199-85delinsTTCA (AP4B1) XP_016855578.1:n.1199-88_1199-85delinsTTCA
XM_017000090.1:c.1007-88_1007-85delinsTTCA (AP4B1) XP_016855579.1:n.1007-88_1007-85delinsTTCA
XM_017000091.2:c.920-88_920-85delinsTTCA (AP4B1) XP_016855580.1:n.920-88_920-85delinsTTCA
XM_017000092.2:c.536-88_536-85delinsTTCA (AP4B1) XP_016855581.1:n.536-88_536-85delinsTTCA
XM_024452422.1:c.1232-88_1232-85delinsTTCA (AP4B1) XP_024308190.1:n.1232-88_1232-85delinsTTCA
XM_024452423.1:c.1199-88_1199-85delinsTTCA (AP4B1) XP_024308191.1:n.1199-88_1199-85delinsTTCA
XM_024452435.1:c.974-88_974-85delinsTTCA (AP4B1) XP_024308203.1:n.974-88_974-85delinsTTCA
XM_024452441.1:c.695-88_695-85delinsTTCA (AP4B1) XP_024308209.1:n.695-88_695-85delinsTTCA
XR_001736928.2:n.1941-88_1941-85delinsTTCA (AP4B1)
XR_001736930.2:n.2085-88_2085-85delinsTTCA (AP4B1)
XR_002958805.1:n.1505-88_1505-85delinsTTCA (AP4B1)
XR_002958806.1:n.1982-88_1982-85delinsTTCA (AP4B1)
XR_002958807.1:n.1952_1955delinsTTCA (AP4B1)
NM_001253852.3:c.1511-88_1511-85delinsTTCA (AP4B1) MANE Select NP_001240781.1:n.1511-88_1511-85delinsTTCA
NM_001253853.3:c.1214-88_1214-85delinsTTCA (AP4B1) NP_001240782.1:n.1214-88_1214-85delinsTTCA
NM_001308312.2:c.1007-88_1007-85delinsTTCA (AP4B1) NP_001295241.1:n.1007-88_1007-85delinsTTCA
NM_006594.5:c.1511-88_1511-85delinsTTCA (AP4B1) NP_006585.2:n.1511-88_1511-85delinsTTCA