Canonical Allele Identifier: CA1189946083

Gene: AP4B1 AP4B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896388_113896397delinsAAAGTCCTCT , CM000663.2:g.113896388_113896397delinsAAAGTCCTCT	GRCh38
NC_000001.10:g.114439010_114439019delinsAAAGTCCTCT , CM000663.1:g.114439010_114439019delinsAAAGTCCTCT	GRCh37
NC_000001.9:g.114240533_114240542delinsAAAGTCCTCT	NCBI36
NG_031901.1:g.13723_13732delinsAGAGGACTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1146_1155delinsAGAGGACTTT (AP4B1)	ENSP00000358577.2:p.Leu382=
ENST00000369567.6:c.867_876delinsAGAGGACTTT (AP4B1)	ENSP00000358580.1:p.Leu289=
ENST00000369571.3:c.1371_1380delinsAGAGGACTTT (AP4B1)	ENSP00000358584.3:p.Leu457=
ENST00000432415.6:c.867_876delinsAGAGGACTTT (AP4B1)	ENSP00000393622.2:p.Leu289=
ENST00000460653.2:c.*441_*450delinsAGAGGACTTT (AP4B1)	ENSP00000518881.1:n.*441_*450delinsAGAGGACTTT
ENST00000484201.6:c.*121_*130delinsAGAGGACTTT (AP4B1)	ENSP00000518883.1:n.*121_*130delinsAGAGGACTTT
ENST00000489499.6:c.*713_*722delinsAGAGGACTTT (AP4B1)	ENSP00000518882.1:n.*713_*722delinsAGAGGACTTT
ENST00000713588.1:c.*482_*491delinsAGAGGACTTT (AP4B1)	ENSP00000518880.1:n.*482_*491delinsAGAGGACTTT
ENST00000713590.1:c.1371_1380delinsAGAGGACTTT (AP4B1)	ENSP00000518886.1:p.Leu457=
ENST00000369569.6:c.1371_1380delinsAGAGGACTTT (AP4B1) MANE Select	ENSP00000358582.1:p.Leu457=
ENST00000256658.8:c.1371_1380delinsAGAGGACTTT (AP4B1)	ENSP00000256658.4:p.Leu457=
ENST00000369567.5:c.867_876delinsAGAGGACTTT (AP4B1)	ENSP00000358580.1:p.Leu289=
ENST00000369569.5:c.1371_1380delinsAGAGGACTTT (AP4B1)	ENSP00000358582.1:p.Leu457=
ENST00000462591.1:n.1543_1552delinsAGAGGACTTT (AP4B1)
ENST00000479285.5:n.599_608delinsAGAGGACTTT (AP4B1)
ENST00000479801.1:n.205_214delinsAGAGGACTTT (AP4B1)
ENST00000484201.5:n.933_942delinsAGAGGACTTT (AP4B1)
NM_001253852.1:c.1371_1380delinsAGAGGACTTT (AP4B1)	NP_001240781.1:p.Leu457=
NM_001253852.2:c.1371_1380delinsAGAGGACTTT (AP4B1)	NP_001240781.1:p.Leu457=
NM_001253853.1:c.1074_1083delinsAGAGGACTTT (AP4B1)	NP_001240782.1:p.Leu358=
NM_001253853.2:c.1074_1083delinsAGAGGACTTT (AP4B1)	NP_001240782.1:p.Leu358=
NM_001308312.1:c.867_876delinsAGAGGACTTT (AP4B1)	NP_001295241.1:p.Leu289=
NM_006594.3:c.1371_1380delinsAGAGGACTTT (AP4B1)	NP_006585.2:p.Leu457=
NM_006594.4:c.1371_1380delinsAGAGGACTTT (AP4B1)	NP_006585.2:p.Leu457=
NR_037864.1:n.247-1480_247-1471delinsAAAGTCCTCT (AP4B1-AS1)
NR_125965.1:n.415-1480_415-1471delinsAAAGTCCTCT (AP4B1-AS1)
XM_005270381.2:c.1199-359_1199-350delinsAGAGGACTTT (AP4B1)	XP_005270438.1:n.1199-359_1199-350delinsAGAGGACTTT
XM_011540523.1:c.1146_1155delinsAGAGGACTTT (AP4B1)	XP_011538825.1:p.Leu382=
XM_011540524.1:c.1146_1155delinsAGAGGACTTT (AP4B1)	XP_011538826.1:p.Leu382=
XM_011540525.1:c.1092_1101delinsAGAGGACTTT (AP4B1)	XP_011538827.1:p.Leu364=
XM_011540527.1:c.753_762delinsAGAGGACTTT (AP4B1)	XP_011538829.1:p.Leu251=
XM_011540528.1:c.396_405delinsAGAGGACTTT (AP4B1)	XP_011538830.1:p.Leu132=
XR_246227.1:n.1485-359_1485-350delinsAGAGGACTTT (AP4B1)
XM_011540523.3:c.1146_1155delinsAGAGGACTTT (AP4B1)	XP_011538825.1:p.Leu382=
XM_011540525.3:c.1092_1101delinsAGAGGACTTT (AP4B1)	XP_011538827.1:p.Leu364=
XM_017000089.2:c.1199-359_1199-350delinsAGAGGACTTT (AP4B1)	XP_016855578.1:n.1199-359_1199-350delinsAGAGGACTTT
XM_017000090.1:c.867_876delinsAGAGGACTTT (AP4B1)	XP_016855579.1:p.Leu289=
XM_017000091.2:c.920-359_920-350delinsAGAGGACTTT (AP4B1)	XP_016855580.1:n.920-359_920-350delinsAGAGGACTTT
XM_017000092.2:c.396_405delinsAGAGGACTTT (AP4B1)	XP_016855581.1:p.Leu132=
XM_024452422.1:c.1092_1101delinsAGAGGACTTT (AP4B1)	XP_024308190.1:p.Leu364=
XM_024452423.1:c.1199-359_1199-350delinsAGAGGACTTT (AP4B1)	XP_024308191.1:n.1199-359_1199-350delinsAGAGGACTTT
XM_024452435.1:c.974-359_974-350delinsAGAGGACTTT (AP4B1)	XP_024308203.1:n.974-359_974-350delinsAGAGGACTTT
XM_024452441.1:c.695-359_695-350delinsAGAGGACTTT (AP4B1)	XP_024308209.1:n.695-359_695-350delinsAGAGGACTTT
XR_001736928.2:n.1801_1810delinsAGAGGACTTT (AP4B1)
XR_001736930.2:n.1945_1954delinsAGAGGACTTT (AP4B1)
XR_002958805.1:n.1505-359_1505-350delinsAGAGGACTTT (AP4B1)
XR_002958806.1:n.1842_1851delinsAGAGGACTTT (AP4B1)
XR_002958807.1:n.1681_1690delinsAGAGGACTTT (AP4B1)
NM_001253852.3:c.1371_1380delinsAGAGGACTTT (AP4B1) MANE Select	NP_001240781.1:p.Leu457=
NM_001253853.3:c.1074_1083delinsAGAGGACTTT (AP4B1)	NP_001240782.1:p.Leu358=
NM_001308312.2:c.867_876delinsAGAGGACTTT (AP4B1)	NP_001295241.1:p.Leu289=
NM_006594.5:c.1371_1380delinsAGAGGACTTT (AP4B1)	NP_006585.2:p.Leu457=