Canonical Allele Identifier: CA1189947562

Gene: AP4B1 AP4B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900161_113900162delinsGA , CM000663.2:g.113900161_113900162delinsGA	GRCh38
NC_000001.10:g.114442783_114442784delinsGA , CM000663.1:g.114442783_114442784delinsGA	GRCh37
NC_000001.9:g.114244306_114244307delinsGA	NCBI36
NG_031901.1:g.9958_9959delinsTC
NG_057565.1:g.543_544delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.631_632delinsTC (AP4B1)	ENSP00000358577.2:p.Ser211=
ENST00000369567.6:c.352_353delinsTC (AP4B1)	ENSP00000358580.1:p.Ser118=
ENST00000369571.3:c.856_857delinsTC (AP4B1)	ENSP00000358584.3:p.Ser286=
ENST00000432415.6:c.352_353delinsTC (AP4B1)	ENSP00000393622.2:p.Ser118=
ENST00000460653.2:c.856_857delinsTC (AP4B1)	ENSP00000518881.1:p.Ser286=
ENST00000484201.6:c.523+108_523+109delinsTC (AP4B1)	ENSP00000518883.1:n.523+108_523+109delinsTC
ENST00000489092.6:c.*524_*525delinsTC (AP4B1)	ENSP00000518884.1:n.*524_*525delinsTC
ENST00000489499.6:c.*198_*199delinsTC (AP4B1)	ENSP00000518882.1:n.*198_*199delinsTC
ENST00000713588.1:c.856_857delinsTC (AP4B1)	ENSP00000518880.1:p.Ser286=
ENST00000713590.1:c.856_857delinsTC (AP4B1)	ENSP00000518886.1:p.Ser286=
ENST00000369569.6:c.856_857delinsTC (AP4B1) MANE Select	ENSP00000358582.1:p.Ser286=
ENST00000256658.8:c.856_857delinsTC (AP4B1)	ENSP00000256658.4:p.Ser286=
ENST00000369564.5:c.631_632delinsTC (AP4B1)	ENSP00000358577.1:p.Ser211=
ENST00000369567.5:c.352_353delinsTC (AP4B1)	ENSP00000358580.1:p.Ser118=
ENST00000369569.5:c.856_857delinsTC (AP4B1)	ENSP00000358582.1:p.Ser286=
ENST00000432415.5:c.352_353delinsTC (AP4B1)	ENSP00000393622.1:p.Ser118=
ENST00000479285.5:n.84_85delinsTC (AP4B1)
ENST00000484201.5:n.714+108_714+109delinsTC (AP4B1)
ENST00000489092.5:n.855_856delinsTC (AP4B1)
ENST00000489499.5:n.824_825delinsTC (AP4B1)
NM_001253852.1:c.856_857delinsTC (AP4B1)	NP_001240781.1:p.Ser286=
NM_001253852.2:c.856_857delinsTC (AP4B1)	NP_001240781.1:p.Ser286=
NM_001253853.1:c.559_560delinsTC (AP4B1)	NP_001240782.1:p.Ser187=
NM_001253853.2:c.559_560delinsTC (AP4B1)	NP_001240782.1:p.Ser187=
NM_001308312.1:c.352_353delinsTC (AP4B1)	NP_001295241.1:p.Ser118=
NM_006594.3:c.856_857delinsTC (AP4B1)	NP_006585.2:p.Ser286=
NM_006594.4:c.856_857delinsTC (AP4B1)	NP_006585.2:p.Ser286=
NR_037864.1:n.658_659delinsGA (AP4B1-AS1)
NR_125965.1:n.826_827delinsGA (AP4B1-AS1)
XM_005270381.2:c.856_857delinsTC (AP4B1)	XP_005270438.1:p.Ser286=
XM_005270382.3:c.856_857delinsTC (AP4B1)	XP_005270439.1:p.Ser286=
XM_011540523.1:c.631_632delinsTC (AP4B1)	XP_011538825.1:p.Ser211=
XM_011540524.1:c.631_632delinsTC (AP4B1)	XP_011538826.1:p.Ser211=
XM_011540525.1:c.577_578delinsTC (AP4B1)	XP_011538827.1:p.Ser193=
XM_011540527.1:c.238_239delinsTC (AP4B1)	XP_011538829.1:p.Ser80=
XR_246227.1:n.1038_1039delinsTC (AP4B1)
XR_246228.2:n.1038_1039delinsTC (AP4B1)
XM_011540523.3:c.631_632delinsTC (AP4B1)	XP_011538825.1:p.Ser211=
XM_011540525.3:c.577_578delinsTC (AP4B1)	XP_011538827.1:p.Ser193=
XM_017000089.2:c.856_857delinsTC (AP4B1)	XP_016855578.1:p.Ser286=
XM_017000090.1:c.352_353delinsTC (AP4B1)	XP_016855579.1:p.Ser118=
XM_017000091.2:c.577_578delinsTC (AP4B1)	XP_016855580.1:p.Ser193=
XM_017000092.2:c.-389_-388delinsTC (AP4B1)	XP_016855581.1:n.-389_-388delinsTC
XM_017000093.2:c.856_857delinsTC (AP4B1)	XP_016855582.1:p.Ser286=
XM_024452422.1:c.577_578delinsTC (AP4B1)	XP_024308190.1:p.Ser193=
XM_024452423.1:c.856_857delinsTC (AP4B1)	XP_024308191.1:p.Ser286=
XM_024452435.1:c.631_632delinsTC (AP4B1)	XP_024308203.1:p.Ser211=
XM_024452441.1:c.352_353delinsTC (AP4B1)	XP_024308209.1:p.Ser118=
XR_001736928.2:n.1058_1059delinsTC (AP4B1)
XR_001736930.2:n.1058_1059delinsTC (AP4B1)
XR_002958805.1:n.1058_1059delinsTC (AP4B1)
XR_002958806.1:n.1058_1059delinsTC (AP4B1)
XR_002958807.1:n.938_939delinsTC (AP4B1)
NM_001253852.3:c.856_857delinsTC (AP4B1) MANE Select	NP_001240781.1:p.Ser286=
NM_001253853.3:c.559_560delinsTC (AP4B1)	NP_001240782.1:p.Ser187=
NM_001308312.2:c.352_353delinsTC (AP4B1)	NP_001295241.1:p.Ser118=
NM_006594.5:c.856_857delinsTC (AP4B1)	NP_006585.2:p.Ser286=