Canonical Allele Identifier: CA1189947015
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113898754_113898756delinsCTG , CM000663.2:g.113898754_113898756delinsCTG GRCh38
NC_000001.10:g.114441376_114441378delinsCTG , CM000663.1:g.114441376_114441378delinsCTG GRCh37
NC_000001.9:g.114242899_114242901delinsCTG NCBI36
NG_031901.1:g.11364_11366delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.935_937delinsCAG (AP4B1) ENSP00000358577.2:p.Thr312=
ENST00000369567.6:c.656_658delinsCAG (AP4B1) ENSP00000358580.1:p.Thr219=
ENST00000369571.3:c.1160_1162delinsCAG (AP4B1) ENSP00000358584.3:p.Thr387=
ENST00000432415.6:c.656_658delinsCAG (AP4B1) ENSP00000393622.2:p.Thr219=
ENST00000460653.2:c.*230_*232delinsCAG (AP4B1) ENSP00000518881.1:n.*230_*232delinsCAG
ENST00000484201.6:c.531_533delinsCAG (AP4B1) ENSP00000518883.1:p.Asn177=
ENST00000489499.6:c.*502_*504delinsCAG (AP4B1) ENSP00000518882.1:n.*502_*504delinsCAG
ENST00000713588.1:c.*271_*273delinsCAG (AP4B1) ENSP00000518880.1:n.*271_*273delinsCAG
ENST00000713590.1:c.1160_1162delinsCAG (AP4B1) ENSP00000518886.1:p.Thr387=
ENST00000369569.6:c.1160_1162delinsCAG (AP4B1) MANE Select ENSP00000358582.1:p.Thr387=
ENST00000256658.8:c.1160_1162delinsCAG (AP4B1) ENSP00000256658.4:p.Thr387=
ENST00000369567.5:c.656_658delinsCAG (AP4B1) ENSP00000358580.1:p.Thr219=
ENST00000369569.5:c.1160_1162delinsCAG (AP4B1) ENSP00000358582.1:p.Thr387=
ENST00000479285.5:n.388_390delinsCAG (AP4B1)
ENST00000484201.5:n.722_724delinsCAG (AP4B1)
NM_001253852.1:c.1160_1162delinsCAG (AP4B1) NP_001240781.1:p.Thr387=
NM_001253852.2:c.1160_1162delinsCAG (AP4B1) NP_001240781.1:p.Thr387=
NM_001253853.1:c.863_865delinsCAG (AP4B1) NP_001240782.1:p.Thr288=
NM_001253853.2:c.863_865delinsCAG (AP4B1) NP_001240782.1:p.Thr288=
NM_001308312.1:c.656_658delinsCAG (AP4B1) NP_001295241.1:p.Thr219=
NM_006594.3:c.1160_1162delinsCAG (AP4B1) NP_006585.2:p.Thr387=
NM_006594.4:c.1160_1162delinsCAG (AP4B1) NP_006585.2:p.Thr387=
NR_037864.1:n.368+765_368+767delinsCTG (AP4B1-AS1)
NR_125965.1:n.536+765_536+767delinsCTG (AP4B1-AS1)
XM_005270381.2:c.1160_1162delinsCAG (AP4B1) XP_005270438.1:p.Thr387=
XM_005270382.3:c.1160_1162delinsCAG (AP4B1) XP_005270439.1:p.Thr387=
XM_011540523.1:c.935_937delinsCAG (AP4B1) XP_011538825.1:p.Thr312=
XM_011540524.1:c.935_937delinsCAG (AP4B1) XP_011538826.1:p.Thr312=
XM_011540525.1:c.881_883delinsCAG (AP4B1) XP_011538827.1:p.Thr294=
XM_011540527.1:c.542_544delinsCAG (AP4B1) XP_011538829.1:p.Thr181=
XM_011540528.1:c.185_187delinsCAG (AP4B1) XP_011538830.1:p.Thr62=
XR_246227.1:n.1342_1344delinsCAG (AP4B1)
XR_246228.2:n.1570_1572delinsCAG (AP4B1)
XM_011540523.3:c.935_937delinsCAG (AP4B1) XP_011538825.1:p.Thr312=
XM_011540525.3:c.881_883delinsCAG (AP4B1) XP_011538827.1:p.Thr294=
XM_017000089.2:c.1160_1162delinsCAG (AP4B1) XP_016855578.1:p.Thr387=
XM_017000090.1:c.656_658delinsCAG (AP4B1) XP_016855579.1:p.Thr219=
XM_017000091.2:c.881_883delinsCAG (AP4B1) XP_016855580.1:p.Thr294=
XM_017000092.2:c.185_187delinsCAG (AP4B1) XP_016855581.1:p.Thr62=
XM_017000093.2:c.1160_1162delinsCAG (AP4B1) XP_016855582.1:p.Thr387=
XM_024452422.1:c.881_883delinsCAG (AP4B1) XP_024308190.1:p.Thr294=
XM_024452423.1:c.1160_1162delinsCAG (AP4B1) XP_024308191.1:p.Thr387=
XM_024452435.1:c.935_937delinsCAG (AP4B1) XP_024308203.1:p.Thr312=
XM_024452441.1:c.656_658delinsCAG (AP4B1) XP_024308209.1:p.Thr219=
XR_001736928.2:n.1590_1592delinsCAG (AP4B1)
XR_001736930.2:n.1631_1633delinsCAG (AP4B1)
XR_002958805.1:n.1362_1364delinsCAG (AP4B1)
XR_002958806.1:n.1631_1633delinsCAG (AP4B1)
XR_002958807.1:n.1470_1472delinsCAG (AP4B1)
NM_001253852.3:c.1160_1162delinsCAG (AP4B1) MANE Select NP_001240781.1:p.Thr387=
NM_001253853.3:c.863_865delinsCAG (AP4B1) NP_001240782.1:p.Thr288=
NM_001308312.2:c.656_658delinsCAG (AP4B1) NP_001295241.1:p.Thr219=
NM_006594.5:c.1160_1162delinsCAG (AP4B1) NP_006585.2:p.Thr387=