Canonical Allele Identifier: CA1189947524

Gene: AP4B1 AP4B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900059_113900060delinsCA , CM000663.2:g.113900059_113900060delinsCA	GRCh38
NC_000001.10:g.114442681_114442682delinsCA , CM000663.1:g.114442681_114442682delinsCA	GRCh37
NC_000001.9:g.114244204_114244205delinsCA	NCBI36
NG_031901.1:g.10060_10061delinsTG
NG_057565.1:g.441_442delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.733_734delinsTG (AP4B1)	ENSP00000358577.2:p.Cys245=
ENST00000369567.6:c.454_455delinsTG (AP4B1)	ENSP00000358580.1:p.Cys152=
ENST00000369571.3:c.958_959delinsTG (AP4B1)	ENSP00000358584.3:p.Cys320=
ENST00000432415.6:c.454_455delinsTG (AP4B1)	ENSP00000393622.2:p.Cys152=
ENST00000460653.2:c.958_959delinsTG (AP4B1)	ENSP00000518881.1:p.Cys320=
ENST00000484201.6:c.523+210_523+211delinsTG (AP4B1)	ENSP00000518883.1:n.523+210_523+211delinsTG
ENST00000489499.6:c.*300_*301delinsTG (AP4B1)	ENSP00000518882.1:n.*300_*301delinsTG
ENST00000713588.1:c.958_959delinsTG (AP4B1)	ENSP00000518880.1:p.Cys320=
ENST00000713590.1:c.958_959delinsTG (AP4B1)	ENSP00000518886.1:p.Cys320=
ENST00000369569.6:c.958_959delinsTG (AP4B1) MANE Select	ENSP00000358582.1:p.Cys320=
ENST00000256658.8:c.958_959delinsTG (AP4B1)	ENSP00000256658.4:p.Cys320=
ENST00000369564.5:c.733_734delinsTG (AP4B1)	ENSP00000358577.1:p.Cys245=
ENST00000369567.5:c.454_455delinsTG (AP4B1)	ENSP00000358580.1:p.Cys152=
ENST00000369569.5:c.958_959delinsTG (AP4B1)	ENSP00000358582.1:p.Cys320=
ENST00000432415.5:c.454_455delinsTG (AP4B1)	ENSP00000393622.1:p.Cys152=
ENST00000479285.5:n.186_187delinsTG (AP4B1)
ENST00000484201.5:n.714+210_714+211delinsTG (AP4B1)
ENST00000489499.5:n.926_927delinsTG (AP4B1)
NM_001253852.1:c.958_959delinsTG (AP4B1)	NP_001240781.1:p.Cys320=
NM_001253852.2:c.958_959delinsTG (AP4B1)	NP_001240781.1:p.Cys320=
NM_001253853.1:c.661_662delinsTG (AP4B1)	NP_001240782.1:p.Cys221=
NM_001253853.2:c.661_662delinsTG (AP4B1)	NP_001240782.1:p.Cys221=
NM_001308312.1:c.454_455delinsTG (AP4B1)	NP_001295241.1:p.Cys152=
NM_006594.3:c.958_959delinsTG (AP4B1)	NP_006585.2:p.Cys320=
NM_006594.4:c.958_959delinsTG (AP4B1)	NP_006585.2:p.Cys320=
NR_037864.1:n.556_557delinsCA (AP4B1-AS1)
NR_125965.1:n.724_725delinsCA (AP4B1-AS1)
XM_005270381.2:c.958_959delinsTG (AP4B1)	XP_005270438.1:p.Cys320=
XM_005270382.3:c.958_959delinsTG (AP4B1)	XP_005270439.1:p.Cys320=
XM_011540523.1:c.733_734delinsTG (AP4B1)	XP_011538825.1:p.Cys245=
XM_011540524.1:c.733_734delinsTG (AP4B1)	XP_011538826.1:p.Cys245=
XM_011540525.1:c.679_680delinsTG (AP4B1)	XP_011538827.1:p.Cys227=
XM_011540527.1:c.340_341delinsTG (AP4B1)	XP_011538829.1:p.Cys114=
XR_246227.1:n.1140_1141delinsTG (AP4B1)
XR_246228.2:n.1140_1141delinsTG (AP4B1)
XM_011540523.3:c.733_734delinsTG (AP4B1)	XP_011538825.1:p.Cys245=
XM_011540525.3:c.679_680delinsTG (AP4B1)	XP_011538827.1:p.Cys227=
XM_017000089.2:c.958_959delinsTG (AP4B1)	XP_016855578.1:p.Cys320=
XM_017000090.1:c.454_455delinsTG (AP4B1)	XP_016855579.1:p.Cys152=
XM_017000091.2:c.679_680delinsTG (AP4B1)	XP_016855580.1:p.Cys227=
XM_017000092.2:c.-287_-286delinsTG (AP4B1)	XP_016855581.1:n.-287_-286delinsTG
XM_017000093.2:c.958_959delinsTG (AP4B1)	XP_016855582.1:p.Cys320=
XM_024452422.1:c.679_680delinsTG (AP4B1)	XP_024308190.1:p.Cys227=
XM_024452423.1:c.958_959delinsTG (AP4B1)	XP_024308191.1:p.Cys320=
XM_024452435.1:c.733_734delinsTG (AP4B1)	XP_024308203.1:p.Cys245=
XM_024452441.1:c.454_455delinsTG (AP4B1)	XP_024308209.1:p.Cys152=
XR_001736928.2:n.1160_1161delinsTG (AP4B1)
XR_001736930.2:n.1160_1161delinsTG (AP4B1)
XR_002958805.1:n.1160_1161delinsTG (AP4B1)
XR_002958806.1:n.1160_1161delinsTG (AP4B1)
XR_002958807.1:n.1040_1041delinsTG (AP4B1)
NM_001253852.3:c.958_959delinsTG (AP4B1) MANE Select	NP_001240781.1:p.Cys320=
NM_001253853.3:c.661_662delinsTG (AP4B1)	NP_001240782.1:p.Cys221=
NM_001308312.2:c.454_455delinsTG (AP4B1)	NP_001295241.1:p.Cys152=
NM_006594.5:c.958_959delinsTG (AP4B1)	NP_006585.2:p.Cys320=