Canonical Allele Identifier: CA1189947626

Gene: AP4B1 AP4B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900353_113900354delinsAG , CM000663.2:g.113900353_113900354delinsAG	GRCh38
NC_000001.10:g.114442975_114442976delinsAG , CM000663.1:g.114442975_114442976delinsAG	GRCh37
NC_000001.9:g.114244498_114244499delinsAG	NCBI36
NG_031901.1:g.9766_9767delinsCT
NG_057565.1:g.735_736delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.439_440delinsCT (AP4B1)	ENSP00000358577.2:p.Leu147=
ENST00000369567.6:c.160_161delinsCT (AP4B1)	ENSP00000358580.1:p.Leu54=
ENST00000369571.3:c.664_665delinsCT (AP4B1)	ENSP00000358584.3:p.Leu222=
ENST00000432415.6:c.160_161delinsCT (AP4B1)	ENSP00000393622.2:p.Leu54=
ENST00000460653.2:c.664_665delinsCT (AP4B1)	ENSP00000518881.1:p.Leu222=
ENST00000484201.6:c.439_440delinsCT (AP4B1)	ENSP00000518883.1:p.Leu147=
ENST00000489092.6:c.*332_*333delinsCT (AP4B1)	ENSP00000518884.1:n.*332_*333delinsCT
ENST00000489499.6:c.*6_*7delinsCT (AP4B1)	ENSP00000518882.1:n.*6_*7delinsCT
ENST00000713588.1:c.664_665delinsCT (AP4B1)	ENSP00000518880.1:p.Leu222=
ENST00000713590.1:c.664_665delinsCT (AP4B1)	ENSP00000518886.1:p.Leu222=
ENST00000369569.6:c.664_665delinsCT (AP4B1) MANE Select	ENSP00000358582.1:p.Leu222=
ENST00000256658.8:c.664_665delinsCT (AP4B1)	ENSP00000256658.4:p.Leu222=
ENST00000369564.5:c.439_440delinsCT (AP4B1)	ENSP00000358577.1:p.Leu147=
ENST00000369567.5:c.160_161delinsCT (AP4B1)	ENSP00000358580.1:p.Leu54=
ENST00000369569.5:c.664_665delinsCT (AP4B1)	ENSP00000358582.1:p.Leu222=
ENST00000369571.2:c.664_665delinsCT (AP4B1)	ENSP00000358584.2:p.Leu222=
ENST00000432415.5:c.160_161delinsCT (AP4B1)	ENSP00000393622.1:p.Leu54=
ENST00000472122.1:n.560_561delinsCT (AP4B1)
ENST00000484201.5:n.630_631delinsCT (AP4B1)
ENST00000489092.5:n.663_664delinsCT (AP4B1)
ENST00000489499.5:n.632_633delinsCT (AP4B1)
NM_001253852.1:c.664_665delinsCT (AP4B1)	NP_001240781.1:p.Leu222=
NM_001253852.2:c.664_665delinsCT (AP4B1)	NP_001240781.1:p.Leu222=
NM_001253853.1:c.367_368delinsCT (AP4B1)	NP_001240782.1:p.Leu123=
NM_001253853.2:c.367_368delinsCT (AP4B1)	NP_001240782.1:p.Leu123=
NM_001308312.1:c.160_161delinsCT (AP4B1)	NP_001295241.1:p.Leu54=
NM_006594.3:c.664_665delinsCT (AP4B1)	NP_006585.2:p.Leu222=
NM_006594.4:c.664_665delinsCT (AP4B1)	NP_006585.2:p.Leu222=
NR_037864.1:n.850_851delinsAG (AP4B1-AS1)
NR_125965.1:n.1018_1019delinsAG (AP4B1-AS1)
XM_005270381.2:c.664_665delinsCT (AP4B1)	XP_005270438.1:p.Leu222=
XM_005270382.3:c.664_665delinsCT (AP4B1)	XP_005270439.1:p.Leu222=
XM_011540523.1:c.439_440delinsCT (AP4B1)	XP_011538825.1:p.Leu147=
XM_011540524.1:c.439_440delinsCT (AP4B1)	XP_011538826.1:p.Leu147=
XM_011540525.1:c.385_386delinsCT (AP4B1)	XP_011538827.1:p.Leu129=
XM_011540527.1:c.46_47delinsCT (AP4B1)	XP_011538829.1:p.Leu16=
XR_246227.1:n.846_847delinsCT (AP4B1)
XR_246228.2:n.846_847delinsCT (AP4B1)
XM_011540523.3:c.439_440delinsCT (AP4B1)	XP_011538825.1:p.Leu147=
XM_011540525.3:c.385_386delinsCT (AP4B1)	XP_011538827.1:p.Leu129=
XM_017000089.2:c.664_665delinsCT (AP4B1)	XP_016855578.1:p.Leu222=
XM_017000090.1:c.160_161delinsCT (AP4B1)	XP_016855579.1:p.Leu54=
XM_017000091.2:c.385_386delinsCT (AP4B1)	XP_016855580.1:p.Leu129=
XM_017000092.2:c.-581_-580delinsCT (AP4B1)	XP_016855581.1:n.-581_-580delinsCT
XM_017000093.2:c.664_665delinsCT (AP4B1)	XP_016855582.1:p.Leu222=
XM_024452422.1:c.385_386delinsCT (AP4B1)	XP_024308190.1:p.Leu129=
XM_024452423.1:c.664_665delinsCT (AP4B1)	XP_024308191.1:p.Leu222=
XM_024452435.1:c.439_440delinsCT (AP4B1)	XP_024308203.1:p.Leu147=
XM_024452441.1:c.160_161delinsCT (AP4B1)	XP_024308209.1:p.Leu54=
XR_001736928.2:n.866_867delinsCT (AP4B1)
XR_001736930.2:n.866_867delinsCT (AP4B1)
XR_002958805.1:n.866_867delinsCT (AP4B1)
XR_002958806.1:n.866_867delinsCT (AP4B1)
XR_002958807.1:n.746_747delinsCT (AP4B1)
NM_001253852.3:c.664_665delinsCT (AP4B1) MANE Select	NP_001240781.1:p.Leu222=
NM_001253853.3:c.367_368delinsCT (AP4B1)	NP_001240782.1:p.Leu123=
NM_001308312.2:c.160_161delinsCT (AP4B1)	NP_001295241.1:p.Leu54=
NM_006594.5:c.664_665delinsCT (AP4B1)	NP_006585.2:p.Leu222=