Canonical Allele Identifier: CA1189945985
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113896115_113896116delinsGA , CM000663.2:g.113896115_113896116delinsGA GRCh38
NC_000001.10:g.114438737_114438738delinsGA , CM000663.1:g.114438737_114438738delinsGA GRCh37
NC_000001.9:g.114240260_114240261delinsGA NCBI36
NG_031901.1:g.14004_14005delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.1286-78_1286-77delinsTC (AP4B1) ENSP00000358577.2:n.1286-78_1286-77delinsTC
ENST00000369567.6:c.1007-78_1007-77delinsTC (AP4B1) ENSP00000358580.1:n.1007-78_1007-77delinsTC
ENST00000369571.3:c.1511-78_1511-77delinsTC (AP4B1) ENSP00000358584.3:n.1511-78_1511-77delinsTC
ENST00000432415.6:c.1007-78_1007-77delinsTC (AP4B1) ENSP00000393622.2:n.1007-78_1007-77delinsTC
ENST00000460653.2:c.*581-78_*581-77delinsTC (AP4B1) ENSP00000518881.1:n.*581-78_*581-77delinsTC
ENST00000484201.6:c.*261-78_*261-77delinsTC (AP4B1) ENSP00000518883.1:n.*261-78_*261-77delinsTC
ENST00000489499.6:c.*853-78_*853-77delinsTC (AP4B1) ENSP00000518882.1:n.*853-78_*853-77delinsTC
ENST00000713588.1:c.*622-78_*622-77delinsTC (AP4B1) ENSP00000518880.1:n.*622-78_*622-77delinsTC
ENST00000713590.1:c.1511-78_1511-77delinsTC (AP4B1) ENSP00000518886.1:n.1511-78_1511-77delinsTC
ENST00000369569.6:c.1511-78_1511-77delinsTC (AP4B1) MANE Select ENSP00000358582.1:n.1511-78_1511-77delinsTC
ENST00000256658.8:c.1511-78_1511-77delinsTC (AP4B1) ENSP00000256658.4:n.1511-78_1511-77delinsTC
ENST00000369567.5:c.1007-78_1007-77delinsTC (AP4B1) ENSP00000358580.1:n.1007-78_1007-77delinsTC
ENST00000369569.5:c.1511-78_1511-77delinsTC (AP4B1) ENSP00000358582.1:n.1511-78_1511-77delinsTC
ENST00000462591.1:n.1683-78_1683-77delinsTC (AP4B1)
ENST00000479285.5:n.880_881delinsTC (AP4B1)
ENST00000479801.1:n.486_487delinsTC (AP4B1)
NM_001253852.1:c.1511-78_1511-77delinsTC (AP4B1) NP_001240781.1:n.1511-78_1511-77delinsTC
NM_001253852.2:c.1511-78_1511-77delinsTC (AP4B1) NP_001240781.1:n.1511-78_1511-77delinsTC
NM_001253853.1:c.1214-78_1214-77delinsTC (AP4B1) NP_001240782.1:n.1214-78_1214-77delinsTC
NM_001253853.2:c.1214-78_1214-77delinsTC (AP4B1) NP_001240782.1:n.1214-78_1214-77delinsTC
NM_001308312.1:c.1007-78_1007-77delinsTC (AP4B1) NP_001295241.1:n.1007-78_1007-77delinsTC
NM_006594.3:c.1511-78_1511-77delinsTC (AP4B1) NP_006585.2:n.1511-78_1511-77delinsTC
NM_006594.4:c.1511-78_1511-77delinsTC (AP4B1) NP_006585.2:n.1511-78_1511-77delinsTC
NR_037864.1:n.247-1753_247-1752delinsGA (AP4B1-AS1)
NR_125965.1:n.415-1753_415-1752delinsGA (AP4B1-AS1)
XM_005270381.2:c.1199-78_1199-77delinsTC (AP4B1) XP_005270438.1:n.1199-78_1199-77delinsTC
XM_011540523.1:c.1286-78_1286-77delinsTC (AP4B1) XP_011538825.1:n.1286-78_1286-77delinsTC
XM_011540524.1:c.1286-78_1286-77delinsTC (AP4B1) XP_011538826.1:n.1286-78_1286-77delinsTC
XM_011540525.1:c.1232-78_1232-77delinsTC (AP4B1) XP_011538827.1:n.1232-78_1232-77delinsTC
XM_011540527.1:c.893-78_893-77delinsTC (AP4B1) XP_011538829.1:n.893-78_893-77delinsTC
XM_011540528.1:c.536-78_536-77delinsTC (AP4B1) XP_011538830.1:n.536-78_536-77delinsTC
XR_246227.1:n.1485-78_1485-77delinsTC (AP4B1)
XM_011540523.3:c.1286-78_1286-77delinsTC (AP4B1) XP_011538825.1:n.1286-78_1286-77delinsTC
XM_011540525.3:c.1232-78_1232-77delinsTC (AP4B1) XP_011538827.1:n.1232-78_1232-77delinsTC
XM_017000089.2:c.1199-78_1199-77delinsTC (AP4B1) XP_016855578.1:n.1199-78_1199-77delinsTC
XM_017000090.1:c.1007-78_1007-77delinsTC (AP4B1) XP_016855579.1:n.1007-78_1007-77delinsTC
XM_017000091.2:c.920-78_920-77delinsTC (AP4B1) XP_016855580.1:n.920-78_920-77delinsTC
XM_017000092.2:c.536-78_536-77delinsTC (AP4B1) XP_016855581.1:n.536-78_536-77delinsTC
XM_024452422.1:c.1232-78_1232-77delinsTC (AP4B1) XP_024308190.1:n.1232-78_1232-77delinsTC
XM_024452423.1:c.1199-78_1199-77delinsTC (AP4B1) XP_024308191.1:n.1199-78_1199-77delinsTC
XM_024452435.1:c.974-78_974-77delinsTC (AP4B1) XP_024308203.1:n.974-78_974-77delinsTC
XM_024452441.1:c.695-78_695-77delinsTC (AP4B1) XP_024308209.1:n.695-78_695-77delinsTC
XR_001736928.2:n.1941-78_1941-77delinsTC (AP4B1)
XR_001736930.2:n.2085-78_2085-77delinsTC (AP4B1)
XR_002958805.1:n.1505-78_1505-77delinsTC (AP4B1)
XR_002958806.1:n.1982-78_1982-77delinsTC (AP4B1)
XR_002958807.1:n.1962_1963delinsTC (AP4B1)
NM_001253852.3:c.1511-78_1511-77delinsTC (AP4B1) MANE Select NP_001240781.1:n.1511-78_1511-77delinsTC
NM_001253853.3:c.1214-78_1214-77delinsTC (AP4B1) NP_001240782.1:n.1214-78_1214-77delinsTC
NM_001308312.2:c.1007-78_1007-77delinsTC (AP4B1) NP_001295241.1:n.1007-78_1007-77delinsTC
NM_006594.5:c.1511-78_1511-77delinsTC (AP4B1) NP_006585.2:n.1511-78_1511-77delinsTC