Canonical Allele Identifier: CA2647215315

Gene: AP4B1 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113900368-TCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900370_113900372del , CM000663.2:g.113900370_113900372del	GRCh38
NC_000001.10:g.114442992_114442994del , CM000663.1:g.114442992_114442994del	GRCh37
NC_000001.9:g.114244515_114244517del	NCBI36
NG_031901.1:g.9749_9751del
NG_057565.1:g.752_754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.422_424del (AP4B1)	ENSP00000358577.2:p.Ala141del
ENST00000369567.6:c.143_145del (AP4B1)	ENSP00000358580.1:p.Ala48del
ENST00000369571.3:c.647_649del (AP4B1)	ENSP00000358584.3:p.Ala216del
ENST00000432415.6:c.143_145del (AP4B1)	ENSP00000393622.2:p.Ala48del
ENST00000460653.2:c.647_649del (AP4B1)	ENSP00000518881.1:p.Ala216del
ENST00000484201.6:c.422_424del (AP4B1)	ENSP00000518883.1:p.Ala141del
ENST00000489092.6:c.*315_*317del (AP4B1)	ENSP00000518884.1:n.*315_*317del
ENST00000489499.6:c.499_501del (AP4B1)	ENSP00000518882.1:p.Leu167del
ENST00000713588.1:c.647_649del (AP4B1)	ENSP00000518880.1:p.Ala216del
ENST00000713590.1:c.647_649del (AP4B1)	ENSP00000518886.1:p.Ala216del
ENST00000369569.6:c.647_649del (AP4B1) MANE Select	ENSP00000358582.1:p.Ala216del
ENST00000256658.8:c.647_649del (AP4B1)	ENSP00000256658.4:p.Ala216del
ENST00000369564.5:c.422_424del (AP4B1)	ENSP00000358577.1:p.Ala141del
ENST00000369567.5:c.143_145del (AP4B1)	ENSP00000358580.1:p.Ala48del
ENST00000369569.5:c.647_649del (AP4B1)	ENSP00000358582.1:p.Ala216del
ENST00000369571.2:c.647_649del (AP4B1)	ENSP00000358584.2:p.Ala216del
ENST00000432415.5:c.143_145del (AP4B1)	ENSP00000393622.1:p.Ala48del
ENST00000472122.1:n.543_545del (AP4B1)
ENST00000484201.5:n.613_615del (AP4B1)
ENST00000489092.5:n.646_648del (AP4B1)
ENST00000489499.5:n.615_617del (AP4B1)
NM_001253852.1:c.647_649del (AP4B1)	NP_001240781.1:p.Ala216del
NM_001253852.2:c.647_649del (AP4B1)	NP_001240781.1:p.Ala216del
NM_001253853.1:c.350_352del (AP4B1)	NP_001240782.1:p.Ala117del
NM_001253853.2:c.350_352del (AP4B1)	NP_001240782.1:p.Ala117del
NM_001308312.1:c.143_145del (AP4B1)	NP_001295241.1:p.Ala48del
NM_006594.3:c.647_649del (AP4B1)	NP_006585.2:p.Ala216del
NM_006594.4:c.647_649del (AP4B1)	NP_006585.2:p.Ala216del
NR_037864.1:n.867_869del (AP4B1-AS1)
NR_125965.1:n.1035_1037del (AP4B1-AS1)
XM_005270381.2:c.647_649del (AP4B1)	XP_005270438.1:p.Ala216del
XM_005270382.3:c.647_649del (AP4B1)	XP_005270439.1:p.Ala216del
XM_011540523.1:c.422_424del (AP4B1)	XP_011538825.1:p.Ala141del
XM_011540524.1:c.422_424del (AP4B1)	XP_011538826.1:p.Ala141del
XM_011540525.1:c.368_370del (AP4B1)	XP_011538827.1:p.Ala123del
XM_011540527.1:c.29_31del (AP4B1)	XP_011538829.1:p.Ala10del
XR_246227.1:n.829_831del (AP4B1)
XR_246228.2:n.829_831del (AP4B1)
XM_011540523.3:c.422_424del (AP4B1)	XP_011538825.1:p.Ala141del
XM_011540525.3:c.368_370del (AP4B1)	XP_011538827.1:p.Ala123del
XM_017000089.2:c.647_649del (AP4B1)	XP_016855578.1:p.Ala216del
XM_017000090.1:c.143_145del (AP4B1)	XP_016855579.1:p.Ala48del
XM_017000091.2:c.368_370del (AP4B1)	XP_016855580.1:p.Ala123del
XM_017000092.2:c.-598_-596del (AP4B1)	XP_016855581.1:n.-598_-596del
XM_017000093.2:c.647_649del (AP4B1)	XP_016855582.1:p.Ala216del
XM_024452422.1:c.368_370del (AP4B1)	XP_024308190.1:p.Ala123del
XM_024452423.1:c.647_649del (AP4B1)	XP_024308191.1:p.Ala216del
XM_024452435.1:c.422_424del (AP4B1)	XP_024308203.1:p.Ala141del
XM_024452441.1:c.143_145del (AP4B1)	XP_024308209.1:p.Ala48del
XR_001736928.2:n.849_851del (AP4B1)
XR_001736930.2:n.849_851del (AP4B1)
XR_002958805.1:n.849_851del (AP4B1)
XR_002958806.1:n.849_851del (AP4B1)
XR_002958807.1:n.729_731del (AP4B1)
NM_001253852.3:c.647_649del (AP4B1) MANE Select	NP_001240781.1:p.Ala216del
NM_001253853.3:c.350_352del (AP4B1)	NP_001240782.1:p.Ala117del
NM_001308312.2:c.143_145del (AP4B1)	NP_001295241.1:p.Ala48del
NM_006594.5:c.647_649del (AP4B1)	NP_006585.2:p.Ala216del