Canonical Allele Identifier: CA525391494

Gene: AP4B1 AP4B1-AS1

Linked Data

• dbSNP Id: rs1206690094
• gnomAD v2: 1-114439150-TAGAC-T
• gnomAD v3: 1-113896528-TAGAC-T
• gnomAD v4: 1-113896528-TAGAC-T
• MyVariant Identifiers: chr1:g.114439151_114439154del (hg19) ; chr1:g.113896529_113896532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896531_113896534del , CM000663.2:g.113896531_113896534del	GRCh38
NC_000001.10:g.114439153_114439156del , CM000663.1:g.114439153_114439156del	GRCh37
NC_000001.9:g.114240676_114240679del	NCBI36
NG_031901.1:g.13588_13591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1078-67_1078-64del (AP4B1)	ENSP00000358577.2:n.1078-67_1078-64del
ENST00000369567.6:c.799-67_799-64del (AP4B1)	ENSP00000358580.1:n.799-67_799-64del
ENST00000369571.3:c.1303-67_1303-64del (AP4B1)	ENSP00000358584.3:n.1303-67_1303-64del
ENST00000432415.6:c.799-67_799-64del (AP4B1)	ENSP00000393622.2:n.799-67_799-64del
ENST00000460653.2:c.*373-67_*373-64del (AP4B1)	ENSP00000518881.1:n.*373-67_*373-64del
ENST00000484201.6:c.*53-67_*53-64del (AP4B1)	ENSP00000518883.1:n.*53-67_*53-64del
ENST00000489499.6:c.*645-67_*645-64del (AP4B1)	ENSP00000518882.1:n.*645-67_*645-64del
ENST00000713588.1:c.*414-67_*414-64del (AP4B1)	ENSP00000518880.1:n.*414-67_*414-64del
ENST00000713590.1:c.1303-67_1303-64del (AP4B1)	ENSP00000518886.1:n.1303-67_1303-64del
ENST00000369569.6:c.1303-67_1303-64del (AP4B1) MANE Select	ENSP00000358582.1:n.1303-67_1303-64del
ENST00000256658.8:c.1303-67_1303-64del (AP4B1)	ENSP00000256658.4:n.1303-67_1303-64del
ENST00000369567.5:c.799-67_799-64del (AP4B1)	ENSP00000358580.1:n.799-67_799-64del
ENST00000369569.5:c.1303-67_1303-64del (AP4B1)	ENSP00000358582.1:n.1303-67_1303-64del
ENST00000462591.1:n.1408_1411del (AP4B1)
ENST00000479285.5:n.531-67_531-64del (AP4B1)
ENST00000479801.1:n.137-67_137-64del (AP4B1)
ENST00000484201.5:n.865-67_865-64del (AP4B1)
NM_001253852.1:c.1303-67_1303-64del (AP4B1)	NP_001240781.1:n.1303-67_1303-64del
NM_001253852.2:c.1303-67_1303-64del (AP4B1)	NP_001240781.1:n.1303-67_1303-64del
NM_001253853.1:c.1006-67_1006-64del (AP4B1)	NP_001240782.1:n.1006-67_1006-64del
NM_001253853.2:c.1006-67_1006-64del (AP4B1)	NP_001240782.1:n.1006-67_1006-64del
NM_001308312.1:c.799-67_799-64del (AP4B1)	NP_001295241.1:n.799-67_799-64del
NM_006594.3:c.1303-67_1303-64del (AP4B1)	NP_006585.2:n.1303-67_1303-64del
NM_006594.4:c.1303-67_1303-64del (AP4B1)	NP_006585.2:n.1303-67_1303-64del
NR_037864.1:n.247-1337_247-1334del (AP4B1-AS1)
NR_125965.1:n.415-1337_415-1334del (AP4B1-AS1)
XM_005270381.2:c.1199-494_1199-491del (AP4B1)	XP_005270438.1:n.1199-494_1199-491del
XM_011540523.1:c.1078-67_1078-64del (AP4B1)	XP_011538825.1:n.1078-67_1078-64del
XM_011540524.1:c.1078-67_1078-64del (AP4B1)	XP_011538826.1:n.1078-67_1078-64del
XM_011540525.1:c.1024-67_1024-64del (AP4B1)	XP_011538827.1:n.1024-67_1024-64del
XM_011540527.1:c.685-67_685-64del (AP4B1)	XP_011538829.1:n.685-67_685-64del
XM_011540528.1:c.328-67_328-64del (AP4B1)	XP_011538830.1:n.328-67_328-64del
XR_246227.1:n.1485-494_1485-491del (AP4B1)
XM_011540523.3:c.1078-67_1078-64del (AP4B1)	XP_011538825.1:n.1078-67_1078-64del
XM_011540525.3:c.1024-67_1024-64del (AP4B1)	XP_011538827.1:n.1024-67_1024-64del
XM_017000089.2:c.1199-494_1199-491del (AP4B1)	XP_016855578.1:n.1199-494_1199-491del
XM_017000090.1:c.799-67_799-64del (AP4B1)	XP_016855579.1:n.799-67_799-64del
XM_017000091.2:c.920-494_920-491del (AP4B1)	XP_016855580.1:n.920-494_920-491del
XM_017000092.2:c.328-67_328-64del (AP4B1)	XP_016855581.1:n.328-67_328-64del
XM_024452422.1:c.1024-67_1024-64del (AP4B1)	XP_024308190.1:n.1024-67_1024-64del
XM_024452423.1:c.1199-494_1199-491del (AP4B1)	XP_024308191.1:n.1199-494_1199-491del
XM_024452435.1:c.974-494_974-491del (AP4B1)	XP_024308203.1:n.974-494_974-491del
XM_024452441.1:c.695-494_695-491del (AP4B1)	XP_024308209.1:n.695-494_695-491del
XR_001736928.2:n.1733-67_1733-64del (AP4B1)
XR_001736930.2:n.1877-67_1877-64del (AP4B1)
XR_002958805.1:n.1505-494_1505-491del (AP4B1)
XR_002958806.1:n.1774-67_1774-64del (AP4B1)
XR_002958807.1:n.1613-67_1613-64del (AP4B1)
NM_001253852.3:c.1303-67_1303-64del (AP4B1) MANE Select	NP_001240781.1:n.1303-67_1303-64del
NM_001253853.3:c.1006-67_1006-64del (AP4B1)	NP_001240782.1:n.1006-67_1006-64del
NM_001308312.2:c.799-67_799-64del (AP4B1)	NP_001295241.1:n.799-67_799-64del
NM_006594.5:c.1303-67_1303-64del (AP4B1)	NP_006585.2:n.1303-67_1303-64del