Canonical Allele Identifier: CA885736295

Gene: AP4B1 AP4B1-AS1

Linked Data

• dbSNP Id: rs1337791059
• gnomAD v3: 1-113896523-G-GATT
• gnomAD v4: 1-113896523-G-GATT
• MyVariant Identifiers: chr1:g.114439145_114439146insATT (hg19) ; chr1:g.113896523_113896524insATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896525_113896526insTAT , CM000663.2:g.113896525_113896526insTAT	GRCh38
NC_000001.10:g.114439147_114439148insTAT , CM000663.1:g.114439147_114439148insTAT	GRCh37
NC_000001.9:g.114240670_114240671insTAT	NCBI36
NG_031901.1:g.13596_13597insAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1078-59_1078-58insAAT (AP4B1)	ENSP00000358577.2:n.1078-59_1078-58insAAT
ENST00000369567.6:c.799-59_799-58insAAT (AP4B1)	ENSP00000358580.1:n.799-59_799-58insAAT
ENST00000369571.3:c.1303-59_1303-58insAAT (AP4B1)	ENSP00000358584.3:n.1303-59_1303-58insAAT
ENST00000432415.6:c.799-59_799-58insAAT (AP4B1)	ENSP00000393622.2:n.799-59_799-58insAAT
ENST00000460653.2:c.*373-59_*373-58insAAT (AP4B1)	ENSP00000518881.1:n.*373-59_*373-58insAAT
ENST00000484201.6:c.*53-59_*53-58insAAT (AP4B1)	ENSP00000518883.1:n.*53-59_*53-58insAAT
ENST00000489499.6:c.*645-59_*645-58insAAT (AP4B1)	ENSP00000518882.1:n.*645-59_*645-58insAAT
ENST00000713588.1:c.*414-59_*414-58insAAT (AP4B1)	ENSP00000518880.1:n.*414-59_*414-58insAAT
ENST00000713590.1:c.1303-59_1303-58insAAT (AP4B1)	ENSP00000518886.1:n.1303-59_1303-58insAAT
ENST00000369569.6:c.1303-59_1303-58insAAT (AP4B1) MANE Select	ENSP00000358582.1:n.1303-59_1303-58insAAT
ENST00000256658.8:c.1303-59_1303-58insAAT (AP4B1)	ENSP00000256658.4:n.1303-59_1303-58insAAT
ENST00000369567.5:c.799-59_799-58insAAT (AP4B1)	ENSP00000358580.1:n.799-59_799-58insAAT
ENST00000369569.5:c.1303-59_1303-58insAAT (AP4B1)	ENSP00000358582.1:n.1303-59_1303-58insAAT
ENST00000462591.1:n.1416_1417insAAT (AP4B1)
ENST00000479285.5:n.531-59_531-58insAAT (AP4B1)
ENST00000479801.1:n.137-59_137-58insAAT (AP4B1)
ENST00000484201.5:n.865-59_865-58insAAT (AP4B1)
NM_001253852.1:c.1303-59_1303-58insAAT (AP4B1)	NP_001240781.1:n.1303-59_1303-58insAAT
NM_001253852.2:c.1303-59_1303-58insAAT (AP4B1)	NP_001240781.1:n.1303-59_1303-58insAAT
NM_001253853.1:c.1006-59_1006-58insAAT (AP4B1)	NP_001240782.1:n.1006-59_1006-58insAAT
NM_001253853.2:c.1006-59_1006-58insAAT (AP4B1)	NP_001240782.1:n.1006-59_1006-58insAAT
NM_001308312.1:c.799-59_799-58insAAT (AP4B1)	NP_001295241.1:n.799-59_799-58insAAT
NM_006594.3:c.1303-59_1303-58insAAT (AP4B1)	NP_006585.2:n.1303-59_1303-58insAAT
NM_006594.4:c.1303-59_1303-58insAAT (AP4B1)	NP_006585.2:n.1303-59_1303-58insAAT
NR_037864.1:n.247-1343_247-1342insTAT (AP4B1-AS1)
NR_125965.1:n.415-1343_415-1342insTAT (AP4B1-AS1)
XM_005270381.2:c.1199-486_1199-485insAAT (AP4B1)	XP_005270438.1:n.1199-486_1199-485insAAT
XM_011540523.1:c.1078-59_1078-58insAAT (AP4B1)	XP_011538825.1:n.1078-59_1078-58insAAT
XM_011540524.1:c.1078-59_1078-58insAAT (AP4B1)	XP_011538826.1:n.1078-59_1078-58insAAT
XM_011540525.1:c.1024-59_1024-58insAAT (AP4B1)	XP_011538827.1:n.1024-59_1024-58insAAT
XM_011540527.1:c.685-59_685-58insAAT (AP4B1)	XP_011538829.1:n.685-59_685-58insAAT
XM_011540528.1:c.328-59_328-58insAAT (AP4B1)	XP_011538830.1:n.328-59_328-58insAAT
XR_246227.1:n.1485-486_1485-485insAAT (AP4B1)
XM_011540523.3:c.1078-59_1078-58insAAT (AP4B1)	XP_011538825.1:n.1078-59_1078-58insAAT
XM_011540525.3:c.1024-59_1024-58insAAT (AP4B1)	XP_011538827.1:n.1024-59_1024-58insAAT
XM_017000089.2:c.1199-486_1199-485insAAT (AP4B1)	XP_016855578.1:n.1199-486_1199-485insAAT
XM_017000090.1:c.799-59_799-58insAAT (AP4B1)	XP_016855579.1:n.799-59_799-58insAAT
XM_017000091.2:c.920-486_920-485insAAT (AP4B1)	XP_016855580.1:n.920-486_920-485insAAT
XM_017000092.2:c.328-59_328-58insAAT (AP4B1)	XP_016855581.1:n.328-59_328-58insAAT
XM_024452422.1:c.1024-59_1024-58insAAT (AP4B1)	XP_024308190.1:n.1024-59_1024-58insAAT
XM_024452423.1:c.1199-486_1199-485insAAT (AP4B1)	XP_024308191.1:n.1199-486_1199-485insAAT
XM_024452435.1:c.974-486_974-485insAAT (AP4B1)	XP_024308203.1:n.974-486_974-485insAAT
XM_024452441.1:c.695-486_695-485insAAT (AP4B1)	XP_024308209.1:n.695-486_695-485insAAT
XR_001736928.2:n.1733-59_1733-58insAAT (AP4B1)
XR_001736930.2:n.1877-59_1877-58insAAT (AP4B1)
XR_002958805.1:n.1505-486_1505-485insAAT (AP4B1)
XR_002958806.1:n.1774-59_1774-58insAAT (AP4B1)
XR_002958807.1:n.1613-59_1613-58insAAT (AP4B1)
NM_001253852.3:c.1303-59_1303-58insAAT (AP4B1) MANE Select	NP_001240781.1:n.1303-59_1303-58insAAT
NM_001253853.3:c.1006-59_1006-58insAAT (AP4B1)	NP_001240782.1:n.1006-59_1006-58insAAT
NM_001308312.2:c.799-59_799-58insAAT (AP4B1)	NP_001295241.1:n.799-59_799-58insAAT
NM_006594.5:c.1303-59_1303-58insAAT (AP4B1)	NP_006585.2:n.1303-59_1303-58insAAT