Canonical Allele Identifier: CA1016034
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1335992
ClinVar RCV Id: RCV001822174
dbSNP Id: rs776766270

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113900357del , CM000663.2:g.113900357del GRCh38
NC_000001.10:g.114442979del , CM000663.1:g.114442979del GRCh37
NC_000001.9:g.114244502del NCBI36
NG_031901.1:g.9765del
NG_057565.1:g.739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.438del (AP4B1) ENSP00000358577.2:p.Leu147CysfsTer?
ENST00000369567.6:c.159del (AP4B1) ENSP00000358580.1:p.Leu54CysfsTer?
ENST00000369571.3:c.663del (AP4B1) ENSP00000358584.3:p.Leu222CysfsTer?
ENST00000432415.6:c.159del (AP4B1) ENSP00000393622.2:p.Leu54CysfsTer?
ENST00000460653.2:c.663del (AP4B1) ENSP00000518881.1:p.Leu222CysfsTer?
ENST00000484201.6:c.438del (AP4B1) ENSP00000518883.1:p.Leu147CysfsTer?
ENST00000489092.6:c.*331del (AP4B1) ENSP00000518884.1:n.*331del
ENST00000489499.6:c.*5del (AP4B1) ENSP00000518882.1:n.*5del
ENST00000713588.1:c.663del (AP4B1) ENSP00000518880.1:p.Leu222CysfsTer?
ENST00000713590.1:c.663del (AP4B1) ENSP00000518886.1:p.Leu222CysfsTer?
ENST00000369569.6:c.663del (AP4B1) MANE Select ENSP00000358582.1:p.Leu222CysfsTer?
ENST00000256658.8:c.663del (AP4B1) ENSP00000256658.4:p.Leu222CysfsTer?
ENST00000369564.5:c.438del (AP4B1) ENSP00000358577.1:p.Leu147CysfsTer?
ENST00000369567.5:c.159del (AP4B1) ENSP00000358580.1:p.Leu54CysfsTer?
ENST00000369569.5:c.663del (AP4B1) ENSP00000358582.1:p.Leu222CysfsTer?
ENST00000369571.2:c.663del (AP4B1) ENSP00000358584.2:p.Leu222CysfsTer?
ENST00000432415.5:c.159del (AP4B1) ENSP00000393622.1:p.Leu54CysfsTer?
ENST00000472122.1:n.559del (AP4B1)
ENST00000484201.5:n.629del (AP4B1)
ENST00000489092.5:n.662del (AP4B1)
ENST00000489499.5:n.631del (AP4B1)
NM_001253852.1:c.663del (AP4B1) NP_001240781.1:p.Leu222CysfsTer?
NM_001253852.2:c.663del (AP4B1) NP_001240781.1:p.Leu222CysfsTer?
NM_001253853.1:c.366del (AP4B1) NP_001240782.1:p.Leu123CysfsTer?
NM_001253853.2:c.366del (AP4B1) NP_001240782.1:p.Leu123CysfsTer?
NM_001308312.1:c.159del (AP4B1) NP_001295241.1:p.Leu54CysfsTer?
NM_006594.3:c.663del (AP4B1) NP_006585.2:p.Leu222CysfsTer?
NM_006594.4:c.663del (AP4B1) NP_006585.2:p.Leu222CysfsTer?
NR_037864.1:n.854del (AP4B1-AS1)
NR_125965.1:n.1022del (AP4B1-AS1)
XM_005270381.2:c.663del (AP4B1) XP_005270438.1:p.Leu222CysfsTer?
XM_005270382.3:c.663del (AP4B1) XP_005270439.1:p.Leu222CysfsTer?
XM_011540523.1:c.438del (AP4B1) XP_011538825.1:p.Leu147CysfsTer?
XM_011540524.1:c.438del (AP4B1) XP_011538826.1:p.Leu147CysfsTer?
XM_011540525.1:c.384del (AP4B1) XP_011538827.1:p.Leu129CysfsTer?
XM_011540527.1:c.45del (AP4B1) XP_011538829.1:p.Leu16CysfsTer?
XR_246227.1:n.845del (AP4B1)
XR_246228.2:n.845del (AP4B1)
XM_011540523.3:c.438del (AP4B1) XP_011538825.1:p.Leu147CysfsTer?
XM_011540525.3:c.384del (AP4B1) XP_011538827.1:p.Leu129CysfsTer?
XM_017000089.2:c.663del (AP4B1) XP_016855578.1:p.Leu222CysfsTer?
XM_017000090.1:c.159del (AP4B1) XP_016855579.1:p.Leu54CysfsTer?
XM_017000091.2:c.384del (AP4B1) XP_016855580.1:p.Leu129CysfsTer?
XM_017000092.2:c.-582del (AP4B1) XP_016855581.1:n.-582del
XM_017000093.2:c.663del (AP4B1) XP_016855582.1:p.Leu222CysfsTer?
XM_024452422.1:c.384del (AP4B1) XP_024308190.1:p.Leu129CysfsTer?
XM_024452423.1:c.663del (AP4B1) XP_024308191.1:p.Leu222CysfsTer?
XM_024452435.1:c.438del (AP4B1) XP_024308203.1:p.Leu147CysfsTer?
XM_024452441.1:c.159del (AP4B1) XP_024308209.1:p.Leu54CysfsTer?
XR_001736928.2:n.865del (AP4B1)
XR_001736930.2:n.865del (AP4B1)
XR_002958805.1:n.865del (AP4B1)
XR_002958806.1:n.865del (AP4B1)
XR_002958807.1:n.745del (AP4B1)
NM_001253852.3:c.663del (AP4B1) MANE Select NP_001240781.1:p.Leu222CysfsTer?
NM_001253853.3:c.366del (AP4B1) NP_001240782.1:p.Leu123CysfsTer?
NM_001308312.2:c.159del (AP4B1) NP_001295241.1:p.Leu54CysfsTer?
NM_006594.5:c.663del (AP4B1) NP_006585.2:p.Leu222CysfsTer?