Canonical Allele Identifier: CA2573888827

Gene: AP4B1 AP4B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896094_113896096dup , CM000663.2:g.113896094_113896096dup	GRCh38
NC_000001.10:g.114438716_114438718dup , CM000663.1:g.114438716_114438718dup	GRCh37
NC_000001.9:g.114240239_114240241dup	NCBI36
NG_031901.1:g.14025_14027dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1286-57_1286-55dup (AP4B1)	ENSP00000358577.2:n.1286-57_1286-55dup
ENST00000369567.6:c.1007-57_1007-55dup (AP4B1)	ENSP00000358580.1:n.1007-57_1007-55dup
ENST00000369571.3:c.1511-57_1511-55dup (AP4B1)	ENSP00000358584.3:n.1511-57_1511-55dup
ENST00000432415.6:c.1007-57_1007-55dup (AP4B1)	ENSP00000393622.2:n.1007-57_1007-55dup
ENST00000460653.2:c.*581-57_*581-55dup (AP4B1)	ENSP00000518881.1:n.*581-57_*581-55dup
ENST00000484201.6:c.*261-57_*261-55dup (AP4B1)	ENSP00000518883.1:n.*261-57_*261-55dup
ENST00000489499.6:c.*853-57_*853-55dup (AP4B1)	ENSP00000518882.1:n.*853-57_*853-55dup
ENST00000713588.1:c.*622-57_*622-55dup (AP4B1)	ENSP00000518880.1:n.*622-57_*622-55dup
ENST00000713590.1:c.1511-57_1511-55dup (AP4B1)	ENSP00000518886.1:n.1511-57_1511-55dup
ENST00000369569.6:c.1511-57_1511-55dup (AP4B1) MANE Select	ENSP00000358582.1:n.1511-57_1511-55dup
ENST00000256658.8:c.1511-57_1511-55dup (AP4B1)	ENSP00000256658.4:n.1511-57_1511-55dup
ENST00000369567.5:c.1007-57_1007-55dup (AP4B1)	ENSP00000358580.1:n.1007-57_1007-55dup
ENST00000369569.5:c.1511-57_1511-55dup (AP4B1)	ENSP00000358582.1:n.1511-57_1511-55dup
ENST00000462591.1:n.1683-57_1683-55dup (AP4B1)
ENST00000479285.5:n.901_903dup (AP4B1)
ENST00000479801.1:n.507_509dup (AP4B1)
NM_001253852.1:c.1511-57_1511-55dup (AP4B1)	NP_001240781.1:n.1511-57_1511-55dup
NM_001253852.2:c.1511-57_1511-55dup (AP4B1)	NP_001240781.1:n.1511-57_1511-55dup
NM_001253853.1:c.1214-57_1214-55dup (AP4B1)	NP_001240782.1:n.1214-57_1214-55dup
NM_001253853.2:c.1214-57_1214-55dup (AP4B1)	NP_001240782.1:n.1214-57_1214-55dup
NM_001308312.1:c.1007-57_1007-55dup (AP4B1)	NP_001295241.1:n.1007-57_1007-55dup
NM_006594.3:c.1511-57_1511-55dup (AP4B1)	NP_006585.2:n.1511-57_1511-55dup
NM_006594.4:c.1511-57_1511-55dup (AP4B1)	NP_006585.2:n.1511-57_1511-55dup
NR_037864.1:n.247-1774_247-1772dup (AP4B1-AS1)
NR_125965.1:n.415-1774_415-1772dup (AP4B1-AS1)
XM_005270381.2:c.1199-57_1199-55dup (AP4B1)	XP_005270438.1:n.1199-57_1199-55dup
XM_011540523.1:c.1286-57_1286-55dup (AP4B1)	XP_011538825.1:n.1286-57_1286-55dup
XM_011540524.1:c.1286-57_1286-55dup (AP4B1)	XP_011538826.1:n.1286-57_1286-55dup
XM_011540525.1:c.1232-57_1232-55dup (AP4B1)	XP_011538827.1:n.1232-57_1232-55dup
XM_011540527.1:c.893-57_893-55dup (AP4B1)	XP_011538829.1:n.893-57_893-55dup
XM_011540528.1:c.536-57_536-55dup (AP4B1)	XP_011538830.1:n.536-57_536-55dup
XR_246227.1:n.1485-57_1485-55dup (AP4B1)
XM_011540523.3:c.1286-57_1286-55dup (AP4B1)	XP_011538825.1:n.1286-57_1286-55dup
XM_011540525.3:c.1232-57_1232-55dup (AP4B1)	XP_011538827.1:n.1232-57_1232-55dup
XM_017000089.2:c.1199-57_1199-55dup (AP4B1)	XP_016855578.1:n.1199-57_1199-55dup
XM_017000090.1:c.1007-57_1007-55dup (AP4B1)	XP_016855579.1:n.1007-57_1007-55dup
XM_017000091.2:c.920-57_920-55dup (AP4B1)	XP_016855580.1:n.920-57_920-55dup
XM_017000092.2:c.536-57_536-55dup (AP4B1)	XP_016855581.1:n.536-57_536-55dup
XM_024452422.1:c.1232-57_1232-55dup (AP4B1)	XP_024308190.1:n.1232-57_1232-55dup
XM_024452423.1:c.1199-57_1199-55dup (AP4B1)	XP_024308191.1:n.1199-57_1199-55dup
XM_024452435.1:c.974-57_974-55dup (AP4B1)	XP_024308203.1:n.974-57_974-55dup
XM_024452441.1:c.695-57_695-55dup (AP4B1)	XP_024308209.1:n.695-57_695-55dup
XR_001736928.2:n.1941-57_1941-55dup (AP4B1)
XR_001736930.2:n.2085-57_2085-55dup (AP4B1)
XR_002958805.1:n.1505-57_1505-55dup (AP4B1)
XR_002958806.1:n.1982-57_1982-55dup (AP4B1)
XR_002958807.1:n.1983_1985dup (AP4B1)
NM_001253852.3:c.1511-57_1511-55dup (AP4B1) MANE Select	NP_001240781.1:n.1511-57_1511-55dup
NM_001253853.3:c.1214-57_1214-55dup (AP4B1)	NP_001240782.1:n.1214-57_1214-55dup
NM_001308312.2:c.1007-57_1007-55dup (AP4B1)	NP_001295241.1:n.1007-57_1007-55dup
NM_006594.5:c.1511-57_1511-55dup (AP4B1)	NP_006585.2:n.1511-57_1511-55dup